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182 variant records found

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OMIA ID(s) Species Name Breed(s) Variant Phenotype Gene Allele Type of Variant Deleterious? Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
OMIA 000547-9913 cattle Ichthyosis congenita ABCA12 missense yes UMD3.1 2 g.103543077A>G c.5804A>G p.H1935R 2008 18344998 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001271-9913 cattle Dwarfism, Dexter ACAN BD2 regulatory yes UMD3.1 21 g.20800319C>T c.-198C>T 2007 17952705 Variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001271-9913 cattle Dwarfism, Dexter ACAN BD1 insertion, small (<=20) yes UMD3.1 21 g.20844569_20844570insGGCA c.2266_2267insGGCA 2007 17952705 Variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000328-9913 cattle Ehlers-Danlos syndrome, type VII (Dermatosparaxis) ADAMTS2 indel, small (<=20) yes UMD3.1 7 g.1957955_1957971delinsAGC c.464_480delinsAGC 1999 10417273 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001511-9913 cattle Angus Contractual arachnodactyly (Fawn calf syndrome) ADAMTSL3 deletion, gross (>20) yes 21 "a large (~58 kilobase pair) deletion affecting the ADAMTSL3 gene" 2014 Reference not in PubMed; see OMIA 001511-9913 for reference details
OMIA 002135-9913 cattle Angus Arthrogryposis multiplex congenita, AGRN-related AGRN deletion, gross (>20) yes A 23,363 bp deletion "encompasses the entirety of the ISG15 ubiquitin-like modifier (ISG15) gene . . . one or both of the 5' regulatory region of the hairy and enhancer split 4 (HES4) and of the agrin (AGRN) gene and of the first two exons of the AGRN gene" (Beever and Marron, 2011) 2011 Reference not in PubMed; see OMIA 002135-9913 for reference details
OMIA 001009-9913 cattle Shorthorn Tibial hemimelia ALX4 deletion, gross (>20) yes Deletion of 45,694 bp including exon 1 of ALX4 2012 Reference not in PubMed; see OMIA 001009-9913 for reference details
OMIA 001009-9913 cattle Galloway Tibial hemimelia ALX4 duplication yes AC_000172; UMD3.1 g.75154399_75154418dup 2015 26076463
OMIA 002083-9913 cattle Japanese Black Abortion (embryonic lethality), ANXA10-related ANXA10 repeat variation yes "a "34-kb deleted-type" CNV "associated with embryonic mortality at 30-60 days after artificial insemination. The CNV harbors exon 2 to 6 of ANNEXIN A10 (ANXA10). . . . Western blot analysis showed that the CNV results in a null allele of ANXA10." 2016 27881083
OMIA 000001-9913 cattle Abortion due to a nonsense mutation in APAF1 on haplotype HH1 APAF1 nonsense (stop-gain) yes UMD 3.1 5 g.63150400C>T c.1741C>T p.Q581* rs448942533 2016 27289157 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001965-9913 cattle Holstein cholesterol deficiency APOB insertion, gross (>20) yes "1.3kb insertion of a transposable LTR element (ERV2-1) in the coding sequence of the APOB gene, which leads to truncated transcripts and aberrant splicing [p.Gly135ValfsX10)]" 2016 26763170
OMIA 001334-9913 cattle Sperm, short tail ARMC3 deletion, small (<=20) yes UMD3.1 13 g.24301426delG c.1442delG p.A451fs26 rs797454424 2016 26923438 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000201-9913 cattle Coat colour, agouti ASIP insertion, gross (>20) no "insertion of a full-length Bos taurus LINE element" 2006 16827753
OMIA 000194-9913 cattle Citrullinaemia ASS1 nonsense (stop-gain) yes UMD 3.1 11 g.100802781C>T c.256C>T p.R86* 1989 2813370 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001450-9913 cattle Belgian Blue Red and White Dutch Congenital muscular dystonia 1 ATP2A1 missense yes UMD3.1 25 g.26191380C>T c.1675C>T p.R559C 2008 18344998 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001464-9913 cattle Pseudomyotonia, congenital ATP2A1 missense yes UMD3.1 25 g.26197204G>T c.857G>T p.G286V 2012 23046865 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001464-9913 cattle Pseudomyotonia, congenital ATP2A1 missense yes UMD3.1 25 g.26197429G>T c.632G>T p.G211V 2012 23046865 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001464-9913 cattle Pseudomyotonia, congenital ATP2A1 missense yes UMD3.1 25 g.26198573G>A c.491G > A p.R164H 2008 18786632 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000627-9913 cattle Maple syrup urine disease BCKDHA nonsense (stop-gain) yes UMD 3.1 18 g.50828859C>T c.154C>T p.Q52* rs479967962 1990 2303405 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000627-9913 cattle Maple syrup urine disease BCKDHA missense yes UMD3.1 18 g.50837932C>T c.1380C>T p.P372L 1999 10425233 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001079-9913 cattle Yellow fat BCO2 nonsense (stop-gain) yes UMD3.1 15 g.22877552 c.306G>A p.W102* 2009 19398771 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 002125-9913 cattle Neurocristopathy CHD7 deletion, small (<=20) yes UMD3.1 14 g.28085731_28085735del p.K594AfsX29 2017 28904385
OMIA 002022-9913 cattle Red Danish Arthrogryposis multiplex congenita, CHRNB1-related CHRNB1 deletion, small (<=20) yes c.55delG p.Ala19Profs47* 2016 27364156
OMIA 000685-9913 cattle Myasthenic syndrome, congenital, CHRNE-related CHRNE deletion, small (<=20) yes UMD3.1 19 g.27119615 c.448_467del 2002 12481987 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001887-9913 cattle Osteopetrosis with gingival hamartomas CLCN7 missense yes c2248T>C + c2250C>A p. Y750Q 2014 24159188
OMIA 001135-9913 cattle Renal dysplasia CLDN16 deletion, gross (>20) yes 37kb deletion of exons 1-4 2000 10810088
OMIA 001135-9913 cattle Renal dysplasia CLDN16 deletion, gross (>20) yes UMD3.1 1 g.77528017_? "a 56-kb deletion that eliminates exons 1-4 and 21-bp of exon 5" 2002 12047224 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001482-9913 cattle Neuronal ceroid lipofuscinosis, 5 CLN5 insertion, small (<=20) yes UMD3.1 12 g.52461241insG c.662insG p.Arg221GlyfsX6 2006 16935476 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 002127-9913 cattle Osteogenesis imperfecta, type II, COL1A1-related COL1A1 indel, small (<=20) yes UMD3.1 19 g.37101299_37101302delinsT p.A1049_P1050DelInsS 2017 28904385
OMIA 001926-9913 cattle Achondrogenesis, type II COL2A1 missense yes UMD3.1 5 g.32469820G>A c.1791G>A p.G600D 2017 28904385 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001926-9913 cattle Achondrogenesis, type II COL2A1 missense yes UMD3.1 5 g.32471813G>A c.2158G>A p.G720S 2017 28904385 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001926-9913 cattle Achondrogenesis, type II COL2A1 splicing yes UMD3.1 5 g.32473300G>A c.2463 + 1G>A 2016 27296271 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001926-9913 cattle Achondrogenesis, type II COL2A1 missense yes UMD3.1 g.32475732G>A p.G960R 2014 25017103
OMIA 001926-9913 cattle Achondrogenesis, type II COL2A1 missense yes UMD3.1 5 g.32476082G>A c.2986G>A p.G996S rs876243579 2017 28904385 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000341-9913 cattle Epidermolysis bullosa, dystrophic COL7A1 nonsense (stop-gain) yes UMD 3.1 22 g. 51873390C>T c.4938C>T p.R1584* rs876174537 2012 22715415 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed and some variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001529-9913 cattle Dominant red COPA DR^DR missense no UMD3.1 3 g.9479761C>T c.478C>T p.R160C 2017 28904385 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002111-9913 cattle Cataract, recessive, CPAMD8-related CPAMD8 nonsense (stop-gain) yes UMD 3.1, AC_000164.1 7 g.5995966C>T c.220C>T p.Gln74* 2017 28683140
OMIA 002033-9913 cattle A2 milk CSN2 A2 missense no UMD3.1 6 g.87181619A>C c.245A>C p.H82P Note that cattle cannot be genotyped for the A2 allele solely on the basis of the c.245A>C variant because this variant is common to 4 other alleles; see Table 2 of Caroli et al. (2009) J. Dairy Sci. 92, 5335-5352 (Matt McClure, pers. comm.) rs43703011 2013 23102962 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001697-9913 cattle Abortion due to haplotype JH1 CWC15 nonsense (stop-gain) yes UMD 3.1 15 g.15707169C>T c.163C>T p.R55* 2013 23349982 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 002109-9913 cattle Tricho-dento-osseous-like syndrome DLX3 insertion, small (<=20) yes NM_001081622 19 g.37298375_37298376insGGAGCACA c.584_585insGGAGCACAGG p.Ser198ArgfsTer99 2017 28670783
OMIA 000543-9913 cattle Anhidrotic ectodermal dysplasia EDA deletion, small (<=20) yes "a 19 bp deletion in exon 1" 2011 21410470
OMIA 000543-9913 cattle Anhidrotic ectodermal dysplasia EDA insertion, small (<=20) yes c.280_281insAGGG 2012 22497423
OMIA 000543-9913 cattle Anhidrotic ectodermal dysplasia EDA insertion, gross (>20) yes UMD3.1 13 g.64234645_64255988del6576ins8 c.1-21344del6576ins8402 "a LINE1-derived pseudoexon between EDA exons 1 and 2. The 161-bp-long pseudoexon introduces a shift in reading frame and a premature stop codon early in EDA exon 2" 2011 22034998 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000543-9913 cattle Anhidrotic ectodermal dysplasia EDA splicing yes UMD3.1 X g.85710147G>T c.924+2G>T IVS8 +2T>G 2002 12021844 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000543-9913 cattle Anhidrotic ectodermal dysplasia EDA deletion, gross (>20) yes UMD3.1 X g.85821470 c.397_502de a large deletion including exon 3 in the gene for ectodysplasin (ED1; now called EDA) 2001 11591646 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 002128-9913 cattle Anhidrotic ectodermal dysplasia, EDAR-related EDAR insertion, small (<=20) yes UMD3.1 11 g.44462236_44462237insC p.P161RfsX97 2017 28904385
OMIA 001716-9913 cattle Ehlers-Danlos syndrome, Holstein variant EPYC missense yes UMD3.1 5 g.20922527 c.258G>T p.S87N 1999 10357109 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000187-9913 cattle Chondrodysplasia EVC2 splicing yes c.1356C>T 2002 12136126
OMIA 000187-9913 cattle Chondrodysplasia EVC2 indel, small (<=20) yes c.2054_2055delCAinsG 2002 12136126
OMIA 000187-9913 cattle Chondrodysplasia EVC2 deletion, small (<=20) yes c.2993delAC p.Asp998GlufsTer13 2014 24733244
OMIA 002042-9913 cattle Abortion (embryonic lethality), EXOSC4 EXOSC4 nonsense (stop-gain) yes UMD3.1 14 g.1947890G>A c.190G>A p.R64* 2016 27646536 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000363-9913 cattle Factor XI deficiency F11 insertion, small (<=20) yes UMD3.1 27 g.15362363C>ATATGTGCAGAATATA c.870insC>ATATGTGCAGAATATA p.Phe290LeuTyrValGlnAsnIle "an insertion of 15 nucleotides in exon 9" 2005 16104386 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000363-9913 cattle Factor XI deficiency F11 insertion, gross (>20) yes UMD3.1 27 g.15367048 c.1406ins76 a 76-bp insertion in exon 12 of the Factor XI gene 2004 15566468 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000437-9913 cattle Brown Japanese Haemophilia A F8 missense yes UMD3.1 X g.38971744T>A c.6458T>A p.L2153H 2009 19456318 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000151-9913 cattle Brachyspina FANCI deletion, gross (>20) yes UMD3.1 21 g.21184870_21188198del c.526-64495_526-67824del p.V877Lfs27X 2012 22952632 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000628-9913 cattle Marfan syndrome FBN1 missense yes UMD3.1 10 g.62054844G>A c.3598G>A p.E1200K 2005 15776436 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000628-9913 cattle Marfan syndrome FBN1 splicing yes UMD3.1 10 g.62141462 c.8227-1G>A 2012 22221020 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000836-9913 cattle Blonde d'Aquitaine Limousin Protoporphyria FECH extension (stop-lost) yes UMD3.1 24 g.57298883G>T c.1250G>T p.*417Lext*27 1998 9784594 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 002090-9913 cattle Facial dysplasia syndrome FGFR2 missense yes UMD3.1 26 g.41861956G>T c.927G>T p.Trp309Cys 2017 28768473 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001360-9913 cattle Trimethylaminuria (fishy taint) FMO3 nonsense (stop-gain) yes UMD 3.1 16 g.39523051C>T c.712C>T p.R238* rs797790546 2002 12466292 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; rsID gleaned from or confirmed by Table 1 of  Sharma et al. (2017) Animal Genetics 48(3):369-370
OMIA 000419-9913 cattle Glycogen storage disease II GAA E13 nonsense (stop-gain) yes UMD 3.1 19 g.53105979C>T c1783C>T p.R595* 2000 10723725 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000419-9913 cattle Glycogen storage disease II GAA E18 deletion, small (<=20) yes UMD3.1 19 g.53102004 c.2454_2455delCA p.T819R 2000 10723725 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000419-9913 cattle Glycogen storage disease II GAA E7 deletion, small (<=20) yes UMD3.1 19 g.53109436_53109437delAT c.1057_1058delAT p.Y353L 2000 10723725 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001826-9913 cattle Abortion due to haplotype HH4 GART missense yes UMD3.1 1 g.1277227A>C c.869A>C p.N290T rs465495560 2013 23762392 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001442-9913 cattle Japanese Black Forelimb-girdle muscular anomaly GFRA1 nonsense (stop-gain) yes UMD 3.1 26 g.36951312C>T c.430C>T p.Q144* 2013 Reference not in PubMed; see OMIA 001442-9913 for reference details Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001473-9913 cattle Dwarfism, growth-hormone deficiency GH1 missense yes UMD3.1 19 g.48768780C>T c.593C>T p.T198M 2009 19524387 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000689-9913 cattle Myoclonus GLRA1 nonsense (stop-gain) yes UMD 3.1 7 g.65080197C>A c.156C>A p.Y52* 2001 11178872 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001985-9913 cattle Dwarfism, Fleckvieh GON4L deletion, small (<=20) yes UMD3.1 3 g.15079217delC c.4285_4287delCCCinsCC p.Glu1430LysfsX66 rs723240647 2016 27036302 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000540-9913 cattle Belted Galloway Hypotrichosis HEPHL1 nonsense (stop-gain) yes UMD 3.1 29 g.695072A>T c.1684A>T p.K562* 2012 Reference not in PubMed; see OMIA 000540-9913 for reference details Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000317-9913 cattle Ears, crop HMX1 insertion, gross (>20) no 76bp duplication of 106,720058 to 106,720,133 on BTA6; UMD3 reference assembly 2013 24194898
OMIA 001319-9913 cattle Holstein-Friesian Myopathy of the diaphragmatic muscles HSPA1A deletion, gross (>20) yes 23 Deletion of one of two HSP70 (heat-shock protein) genes in the bovine major histocompatibility complex 2003 12755819
OMIA 001817-9913 cattle Perinatal weak calf syndrome IARS missense yes UMD3.1 8 g.85341291G>C c.235G>C p.V79L 2013 23700453 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000595-9913 cattle Leukocyte adhesion deficiency, type I ITGB2 missense yes UMD3.1 1 g.145114963A>G c.383A>G p.D128G rs445709131 1992 1384046 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001948-9913 cattle Charolais Epidermolysis bullosa, junctionalis, ITGB4 ITGB4 deletion, gross (>20) yes "a 4.4 kb deletion involving exons 17 to 22" of the ITGB4 gene 2015 25890340
OMIA 001722-9913 cattle Lethal multi-organ developmental dysplasia KDM2B missense yes UMD3.1 17 g.56010031G>A c.2503G>A p.D835N 2012 23029151 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000939-9913 cattle Spinal muscular atrophy KDSR missense yes UMD3.1 24 g.62138763G>A c.562G>A p.A188T 2007 17420465 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000426-9913 cattle Gonadal hypoplasia KIT complex rearrangement yes "gonadal hypoplasia in Northern Finncattle and Swedish Mountain cattle is associated with a complex chromosomal rearrangement including a ~500kb duplicated segment from BTA6 which is translocated to BTA29. This duplicated segment includes the entire coding sequence of the KIT gene" 2013 24086604
OMIA 001576-9913 cattle Coat colour, colour-sided KIT complex rearrangement no "colour sidedness is determined by a first allele on chromosome 29 (Cs(29)), which results from the translocation of a 492-kilobase chromosome 6 segment encompassing KIT to chromosome 29, and a second allele on chromosome 6 (Cs(6)), derived from the first by repatriation of fused 575-kilobase chromosome 6 and 29 sequences to the KIT locus. We provide evidence that both translocation events involved circular intermediates. This is the first example, to our knowledge, of a phenotype determined by homologous yet non-syntenic alleles that result from a novel copy-number-variant-generating mechanism." 2012 22297974
OMIA 001216-9913 cattle Roan KITLG missense no UMD3.1 5 g.18339001 c.572C>A p.A191N 1999 10384045 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000246-9913 cattle Ayrshire Fleckvieh Montbeliarde Curly hair, karakul-type KRT27 missense no UMD3.1 19 g.41636961C>G c.276C>G p.Asn92Lys rs384881761 2014 25017103 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 002081-9913 cattle Epidermolysis bullosa KRT5 missense yes UMD3.1 5 g.27545478G>A c.1432G>A p.E478K 2005 15955091 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002114-9913 cattle Hereford Hypotrichosis, KRT71-related KRT71 deletion, small (<=20) yes UMD3.1 5 g.27505486delTGTGCCCA c.334delTGTGCCCA p.Met93AsnfsX14 2010 Reference not in PubMed; see OMIA 002114-9913 for reference details Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001677-9913 cattle Belgian Blue Epidermolysis bullosa, junctionalis, LAMA3-related LAMA3 nonsense (stop-gain) unknown UMD3.1 24 g.33111473C>T c.7549C>T p.R2517* 2015 26370913 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001678-9913 cattle Hereford Epidermolysis bullosa, junctionalis, LAMC2 LAMC2 deletion, gross (>20) yes "2.4 kb deletion encompassing the first exon of the LAMC2 gene" 2015 25888738
OMIA 001451-9913 cattle Belgian Blue Congenital muscular dystonia 2 LOC528050 missense yes UMD3.1 29 g.24610495T>C c.809T>C p.L270P 2008 18344998 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000963-9913 cattle Angus Syndactyly (mule foot) LRP4 splicing yes UMD3.1 15 g.77667136 c.5385+1G>A "a G to A transition at the first nucleotide in the splice donor site of intron 37" 2006 16963222 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000963-9913 cattle German Simmental Holstein Syndactyly (mule foot) LRP4 missense yes UMD3.1 15 g.77675440 c.4940C>T p.Pro1647Leu rs109636878 2007 17319939 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446; rsID gleaned from or confirmed by Table 1 of  Sharma et al. (2017) Animal Genetics 48(3):369-370
OMIA 000963-9913 cattle Holstein Syndactyly (mule foot) LRP4 indel, small (<=20) yes UMD3.1 15 g.77675516_77675517delCGinsAT c.4840_4841delCGinsAT p.(Asn1614_Gly1615delinsLysCys 2006 16859890 Variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000963-9913 cattle German Simmental Holstein Syndactyly (mule foot) LRP4 missense yes UMD3.1 15 g.77682052G>A c.3571G>A p.Gly1191Ser 2007 17319939 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000963-9913 cattle German Simmental Holstein Syndactyly (mule foot) LRP4 missense yes UMD3.1 15 g.77686731G>A c.2719G>A p.Gly907Arg 2007 17319939 Variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000185-9913 cattle Chediak-Higashi syndrome LYST missense yes UMD3.1 28 g.8508619A>G c.6044A>G p.H2015R 1999 10594238 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000625-9913 cattle Mannosidosis, alpha MAN2B1 missense yes UMD3.1 7 g.13956640G>A c.662G>A p.R221H 1997 9208932 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000625-9913 cattle Mannosidosis, alpha MAN2B1 missense yes UMD3.1 7 g.13957949 c.961T>C p.F321L 1997 9208932 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000626-9913 cattle Mannosidosis, beta MANBA nonsense (stop-gain) yes UMD 3.1 6 g.23540228G>A c.2574G>A p.W858* 1999 10594236 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001199-9913 cattle Dominant black MC1R E^D missense no UMD3.1 18 g.14757910T>C c.296T>C p.L99P rs109688013 1995 8535072 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001199-9913 cattle Fleckvieh Red Friesian Recessive red MC1R e deletion, small (<=20) no UMD3.1 18 g.14757924delG c.310delG p.Gly104ValfsX53 rs110710422 1995 8535072 Variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 002043-9913 cattle Abortion (embryonic lethality), MED22-related MED22 deletion, small (<=20) yes p.Leu38Argfs∗25 2016 27646536
OMIA 001106-9913 cattle Axonopathy MFN2 splicing yes UMD3.1 16 g.42562057C>T c.2229C>T "This SNP is located within a putative exonic splice enhancer (ESE) and the variant allele leads to partial retention of the entire intron 19 and a premature stop codon in the aberrant MFN2 transcript" 2011 21526202 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001565-9913 cattle Abortion and stillbirth due to mutation in MIMT1 MIMT1 deletion, gross (>20) yes a 110 kb deletion in the MIMT1 gene 2010 21152099
OMIA 001931-9913 cattle Depigmentation associated with microphthalmia MITF deletion, gross (>20) yes a de novo deletion of a 19.1 Mb region of BTA22 from 28 835 247-47 983 179 2014 25199536
OMIA 001680-9913 cattle Dominant white with bilateral deafness MITF missense yes UMD3.1 22 g.31746502G>T c.629G>T p.R210I 2011 22174915 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001680-9913 cattle Glass-eyed albino MITF deletion, small (<=20) yes UMD3.1 22 g.31746506_31746508del p.R211del 2017 28904385
OMIA 000214-9913 cattle Coat colour, white spotting MITF regulatory no UMD3.1 22 g.31769189A>T c.33+112A>T 2012 22486495 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001974-9913 cattle Coat colour, cool gray MLPH deletion, small (<=20) no c.87_96del p.Glu32Aspfs*1 2016 26582259
OMIA 001819-9913 cattle Xanthinuria, type II MOCOS deletion, small (<=20) yes c.769_771delTAC 2000 10801779
OMIA 001819-9913 cattle Xanthinuria, type II MOCOS deletion, small (<=20) yes g.21222030delC c.1881delG and c.1782delG p.Ser628Valfs9* and p.Ser595Va 2016 27919260
OMIA 001541-9913 cattle Arachnomelia, BTA23 MOCS1 deletion, small (<=20) yes UMD3.1 23 g.13833868_13833869delCA c.1224_1225delCA rs3835008433 2011 21255426 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001452-9913 cattle Tail, crooked MRC2 missense yes UMD3.1 19 g.47734925T>G c.1906T>G p.C636G rs466131011 2012 22497452 Breed and some variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001452-9913 cattle Tail, crooked MRC2 deletion, small (<=20) yes UMD3.1 19 g.47740473delAG c.2904-2905delAG p.Gly934X 2009 19779552 Breed and some variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000683-9913 cattle Maine Anjou Muscular hypertrophy (double muscling) MSTN D182N missense yes p.D182N 2002 Reference not in PubMed; see OMIA 000683-9913 for reference details
OMIA 000683-9913 cattle Muscular hypertrophy (double muscling) MSTN missense yes UMD 3.1 2 g.6213980A>C c.282C>A p.Phe94Leu rs110065568 1998 9501304 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000683-9913 cattle Blonde d'Aquitaine Charolais Limousin Muscular hypertrophy (double muscling) MSTN nonsense (stop-gain) yes UMD 3.1 2 g.6216138C>T c.610C>T p.Q204* rs110344317 1998 9501304 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000683-9913 cattle Maine Anjou Marchigiana Muscular hypertrophy (double muscling) MSTN nonsense (stop-gain) yes UMD 3.1 2 g.6216204G>T c.676G>T p.E226* 1998 9501304 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000683-9913 cattle Maine Anjou Marchigiana Muscular hypertrophy (double muscling) MSTN nonsense (stop-gain) yes UMD 3.1 2 g.6218432G>T c.1004G>T p.E291* 2013 22497537 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000683-9913 cattle Gelbvieh Muscular hypertrophy (double muscling) MSTN missense yes UMD3.1 2 g.6213889T>C c.191T>C p.L64P rs449270213 2015 25515003 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000683-9913 cattle Parthenaise Muscular hypertrophy (double muscling) MSTN missense yes UMD3.1 2 g.6214012C>G c.314C>G p.Ser105Cys 2002 Reference not in PubMed; see OMIA 000683-9913 for reference details Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000683-9913 cattle Muscular hypertrophy (double muscling) MSTN nt419(del7-ins10) indel, small (<=20) yes UMD3.1 2 g.6215947 c.419_425del7, c418_426ins10 an insertion/deletion in which 10 unrelated bases are inserted in the place a 7 bases that have been deleted at nucleotide 418 1998 9501304 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000683-9913 cattle Angus Asturiana Belgian Blue Blonde d'Aquitaine Braford Limousin Murray Grey Parthenaise Santa Gertrudis South Devon Muscular hypertrophy (double muscling) MSTN deletion, small (<=20) yes UMD3.1 2 g.6218379delATGAACACTCC c.821-831delTGAACACTCCA p.Glu275ArgfsX14 1997 9288100 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000683-9913 cattle Gasconne Parthenaise Piedmontese Muscular hypertrophy (double muscling) MSTN missense yes UMD3.1 2 g.6218499G>A c.938G>A p.C313Y 1997 9314496 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001978-9913 cattle Arthrogryposis, distal, type 1B MYBPC1 missense yes UMD3.1 5 g.65787153T>G c.884T>G p.L295R 2015 26289121 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002039-9913 cattle Abortion (embryonic lethality), MYH6-related MYH6 deletion, small (<=20) yes p.Lys1730del 2016 27646536
OMIA 001342-9913 cattle Mucopolysaccharidosis IIIB NAGLU missense yes UMD3.1 19 g.43264699G>A c.1354G>A p.E452K 2007 17458708 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002103-9913 cattle Angus Developmental duplications NHLRC2 missense yes UMD3.1 26 g.34618072T>C c.932T>C p.V311A 2014 Reference not in PubMed; see OMIA 002103-9913 for reference details Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001936-9913 cattle Cataract, recessive, Romagnola NID1 deletion, gross (>20) yes "an 855 bp deletion across the exon 19/intron 19 border of the bovine nidogen 1 (NID1) gene (c.3579_3604+829del)" 2014 25347398
OMIA 002035-9913 cattle Abortion (embryonic lethality), OBFC1-related OBFC1 deletion, small (<=20) yes 26 g.24720155_24720156delAA c.379_380delAA p.Lys127Valfs∗28 2016 27646536
OMIA 000162-9913 cattle Cardiomyopathy, dilated OPA3 nonsense (stop-gain) yes UMD 3.1 18 g.53546443C>T c.343C>T p.Q115* 2011 20923700 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001437-9913 cattle Beta-lactoglobulin, aberrant low expression PAEP regulatory yes UMD3.1 11 g.103301704 c.-215C>A "C to A transversion at position 215 bp upstream of the translation initiation site" 2006 17033029 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001827-9913 cattle Abortion due to haplotype MH1 PFAS missense yes UMD3.1 19 g.28511199C>T c.3613C>T p.R1205C rs455876205 2017 28803020 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001953-9913 cattle Arthrogryposis, lethal syndrome PIGH splicing yes UMD3.1.1 10 g.79814520C>G c.211-10C>G rs451004237 2015 25895751 Variant information gleaned from or confirmed by Table 1 of  Sharma et al. (2017) Animal Genetics 48(3):369-370
OMIA 001935-9913 cattle Zinc deficiency-like syndrome PLD4 nonsense (stop-gain) yes UMD3.1 21 g.71001232G>A c.702G>A p.W234* rs378824791 2014 25052073 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; rsID gleaned from or confirmed by Table 1 of  Sharma et al. (2017) Animal Genetics 48(3):369-370
OMIA 001545-9913 cattle Charolais Galloway Hereford Highland Simmental Coat colour, dilution PMEL deletion, small (<=20) no UMD3.1 5 g.57669913_57669915delTTC c.50_52delTTC p.Leu19del rs385468954 2008 18408794 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001545-9913 cattle Charolais Coat colour, dilution PMEL missense no UMD3.1 5 g.57669926G>A c.64G>A p.Gly22Arg rs718553050 2007 17705851 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000827-9913 cattle Progressive degenerative myeloencephalopathy (Weaver syndrome) PNPLA8 missense yes UMD3.1 4 g.49878773G>A c.1703G>A p.S568N rs800397662 2016 26992691 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000483-9913 cattle Polled, Celtic allele POLL P[sub]C OR P[sub]202ID complex rearrangement no UMD3.1 1 g.1706051_1706060 delins170583 "a duplication of 212 bp replacing a segment of 10 bp" in a region with no known genes or expressed sequence tags. Celtic = breeds of European origin, e.g. Charolais 2013 23717440
OMIA 000483-9913 cattle Polled, Friesian allele POLL P[sub]F OR P(sub)80kbID duplication no UMD3.1 1 g.1909352_1989480dup 2013 23717440
OMIA 000483-9913 cattle Mongolian Turano Polled, Mongolian allele POLL P[sub]M OR P[sub]219ID complex rearrangement no UMD3.1 1 g.1976128_?? "a complex 219-bp duplication-insertion (P219ID) beginning at 1,976,128 bp and a 7-bp deletion and 6-bp insertion (P1ID) located 621 bp upstream of this position . . . . This rearrangement results in duplication of an 11-bp motif (5'-AAAGAAGCAAA-3') that is entirely conserved among Bovidae . . . and that is also duplicated in the 80-kb duplication responsible for Friesian polledness" 2017 28135247
OMIA 000161-9913 cattle Cardiomyopathy and woolly haircoat syndrome PPP1R13L insertion, small (<=20) yes UMD3.1 18 g.53440861-53440867dupACAGGCG c.956-962dupACAGGCG p.Gly335GlufsX36 2009 19016676 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001485-9913 cattle Dwarfism, Angus PRKG2 nonsense (stop-gain) yes UMD 3.1 6 g.97667351C>T c.1573C>T p.R525* rs109639251 2009 19887637 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001485-9913 cattle Dwarfism, Angus PRKG2 nonsense (stop-gain) yes UMD3.1 6 g.97667351 c.2032C>T p.R678* 2009 19887637 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000441-9913 cattle Hairy PRL missense no UMD3.1 23 g.35105313A>C c.661A>C p.C221G 2014 25519203 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001372-9913 cattle Slick hair PRLR deletion, small (<=20) no UMD3.1 20 g.39136559delC p.Leu462* ss1067289408 2014 25519203 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; some variant information gleaned from or confirmed by Table 1 of  Sharma et al. (2017) Animal Genetics 48(3):369-370
OMIA 000944-9913 cattle Spongiform encephalopathy (mad cow disease) PRNP missense yes p.E211K 2008 18625065
OMIA 001139-9913 cattle Glycogen storage disease V PYGM missense yes UMD3.1 29 g.43611783 c.1468C>T p.R490W 1996 8845714 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 002037-9913 cattle Abortion (embryonic lethality), RABGGTB RABGGTB missense yes UMD3.1 3 g.69318970A>G c.584A>G p.Y195C 2016 27646536 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001003-9913 cattle Thrombopathia RASGRP2 missense yes UMD3.1 29 g.43599204T>C c.701T>C p.L234P rs385444696 2007 18039909 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001901-9913 cattle Abortion due to deletion of RNASEH2B RNASEH2B deletion, gross (>20) yes A 662kb deletion encompases the gene RNASEH2B, lack of which creates embryonic lethality 2014 24391517
OMIA 001686-9913 cattle Dwarfism, proportionate, with inflammatory lesions RNF11 splicing yes UMD3.1 3 g.95601696A>G c.124-2A>G 2012 22438830 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 002038-9913 cattle Abortion (embryonic lethality), RNF20 RNF20 nonsense (stop-gain) yes UMD3.1 8 g.92930920A>T c.2077A>T p.K693* 2016 27646536 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002029-9913 cattle Retinitis pigmentosa 1 RP1 insertion, small (<=20) yes UMD3.1 14 g.23995411_23995412insA p. R791KfsX13 2016 27510606
OMIA 002134-9913 cattle Ayrshire Abortion due to haplotype AH2 RPAP2 splicing yes 3 g.51267548 2017 Reference not in PubMed; see OMIA 002134-9913 for reference details
OMIA 002041-9913 cattle Abortion (embryonic lethality), RPIA-related RPIA splicing yes UMD3.1 11 g.47223666 c.826+1G>A 2016 27646536 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002053-9913 cattle Hydrallantois SLC12A1 missense yes UMD3.1 10 g.62382825G > A p.P386L 2016 27613513
OMIA 001958-9913 cattle Abortion due to haplotype FH2 SLC2A2 indel, small (<=20) yes UMD3.1 1 g.97239973_97239976delTTGAAAAG c.771_778delTTGAAAAGinsCATC rs379675307 2015 25927203 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000366-9913 cattle Fanconi syndrome SLC2A2 indel, small (<=20) yes UMD3.1 1 g.97239973_97239976delTTGAAAAG c.771_778delTTGAAAAGinsCATC rs379675307 2016 27169150 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001340-9913 cattle Complex vertebral malformation SLC35A3 missense yes UMD3.1 3 g.43412427G>T c.538G>T p.V180F rs438228855 2006 16344554 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001828-9913 cattle Abortion due to haplotype MH2 SLC37A2 nonsense (stop-gain) yes UMD 3.1 29 g.28879810C>T c.34C>T p.R12* 2013 23762392 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000593-9913 cattle Acrodermatitis enteropathica SLC39A4 splicing yes UMD3.1 14 g.1723330 c.1645+1G>A "a single nucleotide mutation of the splice donor site in intron 10" 2006 16714095 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001821-9913 cattle Coat colour, albinism, oculocutaneous type IV SLC45A2 missense yes UMD3.1 20 g.39829806G>A c.134G>A p.R45Q Important note by Rothammer et al. 92017): "To determine which of the two mutations or even if the combination of both is causal for oculocutaneous albinism in Braunvieh, it would be necessary to produce additional cases and investigate them more precisely" 2017 28982372 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001821-9913 cattle Coat colour, albinism, oculocutaneous type IV SLC45A2 missense yes UMD3.1 20 g.39864148C>T c.1331C>T p.T444I Important note by Rothammer et al. 92017): "To determine which of the two mutations or even if the combination of both is causal for oculocutaneous albinism in Braunvieh, it would be necessary to produce additional cases and investigate them more precisely" 2017 28982372 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001228-9913 cattle Spherocytosis SLC4A1 nonsense (stop-gain) yes UMD3.1 19 g.44695843 c.1990C>T p.R664* 1996 8621763 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000755-9913 cattle Angus Friesian Hereford Holstein Simmental Osteopetrosis SLC4A2 deletion, gross (>20) yes UMD3.1 4 g.114437192_114439942del "approximately 2.8-kb deletion mutation in affected calves that encompasses exon 2 and nearly half of exon 3" 2010 20507629 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001824-9913 cattle Abortion due to haplotype HH3 SMC2 missense yes UMD3.1 8 g.95410507T>C c.3404T>C p.F1135S rs456206907 2014 24667746 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 002040-9913 cattle Abortion (embryonic lethality), SNAPC4-related SNAPC4 deletion, small (<=20) yes p.Leu1227Alafs∗134 2016 27646536
OMIA 001247-9913 cattle Spinal dysmyelination SPAST missense yes UMD3.1 11 g.14760164G>A c.1964G>A p.R560Q rs445770480 2010 19714378 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001230-9913 cattle Japanese Black Ovotesticular DSD (Disorder of Sexual Development) SRY deletion, gross (>20) yes Y A deletion of the SRY gene 1996 8978769
OMIA 001960-9913 cattle Abortion due to haplotype FH4 SUGT1 missense yes UMD3.1 12 g.11131497T>C c.949T>C p.W317R rs110793536 2015 25927203 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000059-9913 cattle Arachnomelia, BTA5 SUOX insertion, small (<=20) yes UMD3.1 5 g.57641332-57641333insG c.363-364insG p.Ala124GlyfsX42 2010 20865119 Variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001951-9913 cattle Vertebral and spinal dysplasia T missense yes UMD3.1 9 g.102675827A>G c.196A>G p.K66E 2015 25614605 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000424-9913 cattle Goitre, familial TG nonsense (stop-gain) yes UMD 3.1 14 g. 9487845C>T c.1963C>T p.R655* rs480120030 1987 3472203 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001902-9913 cattle Male subfertility TMEM95 nonsense (stop-gain) yes UMD3.1 19 g.27689622C>A c.483C>A p.Cys161* rs378652941 2014 24391514 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000542-9913 cattle Hypotrichosis, streaked TSR2 splicing yes UMD3.1 X g.97363937A>G c.441+226A>G 2015 26203908 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 002036-9913 cattle Abortion (embryonic lethality), TTF1 TTF1 nonsense (stop-gain) yes UMD3.1 11 g.102498942G>A c.1579G>A p.R527* rs715966442 2016 27646536 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001939-9913 cattle Abortion due to haplotype BH2 TUBD1 missense yes UMD3.1 19 g.11063520T>C c.757T>C p.H210R rs383232842 2016 27225349 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001593-9913 cattle Scurs, type 2 TWIST1 insertion, small (<=20) no UMD3.1 4 g.27855023 c.148_157dup p.A56RfsX87 2011 21814570 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001469-9913 cattle Coat colour, white belt TWIST2 regulatory no "a copy number variant (CNV) involving the quadruplication of a 6 kb non-coding sequence located approximately 16 kb upstream of the TWIST2 gene" 2017 28658273
OMIA 001469-9913 cattle Coat colour, white belt TWIST2 repeat variation no "The belt-associated variant was a copy number variant (CNV) involving the quadruplication of a 6 kb non-coding sequence located approximately 16 kb upstream of the TWIST2 gene" 2017 28658273
OMIA 000202-9913 cattle Coat colour, albinism TYR insertion, small (<=20) no UMD3.1 29 g.6451725 c.925_926insC 2004 14727143 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001249-9913 cattle Dun brown TYRP1 missense no UMD3.1 8 g.31711945C>T c.1300C>T p.H434Y 2003 12755816 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001934-9913 cattle Ptosis, intellectual disability, retarded growth and mortality (PIRM) syndrome UBE3B splicing yes UMD3.1.1 17 g.65921497G>A p.E692E rs475678587 2014 25306138 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Variant rsID kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000262-9913 cattle Deficiency of uridine monophosphate synthase UMPS nonsense (stop-gain) yes UMD 3.1 1 g.69756880C>T c.1213C>T p.R405* 1993 8486364 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000733-9913 cattle Multiple ocular defects WFDC1 insertion, small (<=20) yes UMD3.1 18 g.10570493 c.321insC insertion of a single base in the gene for WFDC1 2009 19374945 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001736-9913 cattle Charolais Polled and multisystemic syndrome ZEB2 deletion, gross (>20) yes A 3.7Mb deletion encompassing the genes ARHGAP15, GTDC1 and ZEB2 2012 23152852
Overall Statistics
Total number of variants 182
Variants with genomic location 144 (79.1% )
Variants in a variant database, i.e. with rs ID 39 (21.4%)
Variant Type Count Percent
complex rearrangement 4 2.2%
deletion, gross (>20) 17 9.3%
deletion, small (<=20) 24 13.2%
duplication 2 1.1%
extension (stop-lost) 1 0.5%
indel, small (<=20) 7 3.8%
insertion, gross (>20) 5 2.7%
insertion, small (<=20) 12 6.6%
missense 62 34.1%
nonsense (stop-gain) 29 15.9%
regulatory 4 2.2%
repeat variation 2 1.1%
splicing 13 7.1%
Year First Reported Count Percent
1987 1 0.5%
1988 0 0.0%
1989 1 0.5%
1990 1 0.5%
1991 0 0.0%
1992 1 0.5%
1993 1 0.5%
1994 0 0.0%
1995 2 1.1%
1996 3 1.6%
1997 4 2.2%
1998 5 2.7%
1999 6 3.3%
2000 5 2.7%
2001 2 1.1%
2002 8 4.4%
2003 2 1.1%
2004 2 1.1%
2005 3 1.6%
2006 7 3.8%
2007 9 4.9%
2008 6 3.3%
2009 8 4.4%
2010 5 2.7%
2011 8 4.4%
2012 14 7.7%
2013 11 6.0%
2014 15 8.2%
2015 11 6.0%
2016 23 12.6%
2017 18 9.9%