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80 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 001271-9796 horse Miniature Shetland Dwarfism, ACAN-related ACAN missense yes EquCab2 1 g.94370258G>C c.1513G>C p.A505P 2017 27942904 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000991-9796 horse Warmblood Androgen insensitivity syndrome AR deletion, gross (>20) yes "a 25-bp deletion of the DNA-binding domain [of the AR gene]" 2017 28192783
OMIA 000991-9796 horse Quarter Horse Androgen insensitivity syndrome (AIS) AR regulatory yes c.1A>G mutation in start codon 2012 22095250
OMIA 000991-9796 horse Thoroughbred Androgen insensitivity syndrome AR missense yes c.2042G>C 2016 27073903
OMIA 000201-9796 horse Coat colour, recessive black ASIP deletion, small (<=20) no g.2174_2184del11 c.191_201del 2001 11353392
OMIA 000487-9796 horse Friesian Hydrocephalus B3GALNT2 nonsense (stop-gain) yes EquCab2 1 g.75907505C>T c.1423C>T p.Q475* 2015 26452345 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002068-9796 horse Friesian Dwarfism, Friesian B4GALT7 splicing yes EquCab2 14 g.4535550C>T c.50G>A p.R17K 2016 27793082 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000698-9796 horse New Forest Pony Myotonia CLCN1 missense yes c.1775A>C p.D592A 2012 22197188
OMIA 000735-9796 horse Belgian Haflinger Percheron Ocular squamous cell carcinoma DDB2 missense yes EquCab2 12 g.11608667 c.1013C>T p.T338M 2017 28425625 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000629-9796 horse American Paint Horse Miniature Horse Pinto Horse Quarter Horse Thoroughbred Megacolon EDNRB frame overo missense yes EquCab2 17 g.50624658 c.353-354TC>AG p. I118K 1998 9530628 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000420-9796 horse American Quarter Horse Glycogen storage disease IV GBE1 nonsense (stop-gain) yes c.102C>A p.Y34* 2004 15366377
OMIA 001158-9796 horse American Paint Horse Appaloosa Draft Quarter Horse Warmblood Polysaccharide storage myopathy/Exertional rhabdomyolysis GYS1 missense yes EquCab2 10 g.18940324G>A c.926G>A p.R309H 2008 18358695 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000081-9796 horse Arabian Atlanto occipital fusion HOXD3 deletion, gross (>20) yes "a 2.7-kb deletion located 4.4 kb downstream of the end of HOXD4 and 8.2 kb upstream of the start of HOXD3." 2017 28111759
OMIA 001899-9796 horse Quarter Horse Warmblood Incontinentia pigmenti IKBKG nonsense (stop-gain) yes EquCab 2 X g.122833887C>T c.202C>T p.R68* 2013 24324710 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001000-9796 horse Peruvian Paso Quarter Horse Thrombasthenia ITGA2B deletion, small (<=20) yes "A 10-base-pair deletion" 2007 17338169
OMIA 001000-9796 horse Quarter Horse Thoroughbred Thrombasthenia ITGA2B missense yes c.G>C p.R41P 2006 16407493
OMIA 000209-9796 horse Thoroughbred Coat colour, dominant white KIT W27 missense unknown 3 c.1473T>G p.Cys491Trp 2018 29333746
OMIA 000209-9796 horse Thoroughbred Coat colour, dominant white KIT W26 deletion, small (<=20) unknown 3 c.2536delA p.Ser846Valfs*15 2018 29333746
OMIA 000209-9796 horse South German Draft Coat colour, dominant white KIT W11 splicing no Equ cab 2 3 g.77731743G>A c.2684+1G>A 2009 19456317 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Miniature Horse Quarter Horse Coat colour, dominant white KIT W13 splicing no Equ cab 2 3 g.77735380G>C c.2472+5G>C 2011 21554354 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Appaloosa Haflinger Lipizzan Noriker Quarter Horse Coat colour, dominant white KIT sabino 1 (SB1) splicing no Equ cab 2 3 g.77735520A>T "SNP AX-103727726 (ECA3:77735520; SB1, SNP KI16+1037A)" (Druml et al., 2018) 2005 16284805 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Icelandic Coat colour, dominant white KIT W8 splicing no Equ cab 2 3 g.77736688 c.2222-1 2009 19456317 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Swiss Warmblood Coat colour, dominant white KIT W18 splicing no Equ cab 2 3 g.77745065G>A c.1346 + 1G>A 2013 23659293 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Thoroughbred Coat colour, dominant white KIT W7 splicing no Equ cab 2 3 g.77771305G>C c.338-1G>C 2009 19456317 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse White spotting KIT W22 deletion, gross (>20) no EquCab2 3 g.77,740,239_77,742,136del1898 2017 28444912
OMIA 000209-9796 horse Oldenburg Coat colour, dominant white KIT W16 missense no EquCab2 3 g.77732055A>T c.2489A>T p.K830I 2011 21554354 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Thoroughbred Coat colour, dominant white KIT W14 deletion, gross (>20) no EquCab2 3 g.77735465_77735518del c.2392_2445del p.H798_N815del 2011 21554354 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Icelandic White spotting KIT W21 deletion, small (<=20) no EquCab2 3 g.77735488delG c.2369delC p.Ala790Glufs*20 2015 26059442 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Thoroughbred Coat colour, dominant white KIT W5 deletion, small (<=20) no EquCab2 3 g.77737214delG c.2193delG p.T732QfsX9 2009 19456317 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Franches-Montagnes Coat colour, dominant white KIT W1 nonsense (stop-gain) no EquCab2 3 g.77737256C>G c.2151C>G p.Y717* 2007 17997609 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse American Paint Horse Appaloosa German Riding Pony Gipsy Noriker Old-Tori Oldenberg Quarter Horse Thoroughbred Warmblood Welsh Pony Coat colour, dominant white KIT W20 missense unknown EquCab2 3 g.77739534G>A c.2045G>A p.R682H 2013 23659293 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Japanese Draft Coat colour, dominant white KIT W17b missense no EquCab2 3 g.77739558T>C c.2021T>C p.L674P 2011 21554354 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Japanese Draft Coat colour, dominant white KIT w17a missense no EquCab2 3 g.77739579A>T c.2001A>T p.E667D 2011 21554354 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Thoroughbred Coat colour, dominant white KIT W2 missense no EquCab2 3 g.77740854G>A c.1960G>A p.G654R 2007 17997609 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Camarillo White Horse Coat colour, dominant white KIT W4 missense no EquCab2 3 g.77741094C>T c.1805C>T p.A602V 2007 17997609 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Holstein Coat colour, dominant white KIT W9 missense no EquCab2 3 g.77741111G>A c.1789G>A p.G597R 2009 19456317 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Arabian Coat colour, dominant white KIT W15 missense no EquCab2 3 g.77741665T>C c.1597T>C p.C533R 2011 21554354 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Arabian Coat colour, dominant white KIT W19 missense no EquCab2 3 g.77745090A>G c.1322A>G p.Y441C 2013 23659293 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Quarter Horse Coat colour, dominant white KIT W10 deletion, small (<=20) no EquCab2 3 g.77758240_77758243del c.1126_1129delGAAC p.E376FfsX3 2009 19456317 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Thoroughbred Coat colour, dominant white KIT W6 missense no EquCab2 3 g.77765059G>A c.856G>A p.G286R 2009 19456317 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Arabian White spotting KIT W23 splicing unknown EquCab2 3 g.77769789C>G c.756+1G>C ss2137493881 2017 28378922
OMIA 000209-9796 horse Arabian Coat colour, dominant white KIT W3 nonsense (stop-gain) no EquCab2 3 g.77769840A>T c.706A>T p.K236* 2007 17997609 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Thoroughbred Coat colour, dominant white KIT W12 deletion, small (<=20) unknown EquCab2 3 g.77771079_77771083delTCTGC c.559_563delTCTGC p.Ser187ArgfsX10 2010 Reference not in PubMed; see OMIA 000209-9796 for reference details Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Italian Trotter Coat colour, dominant white KIT W24 splicing no EquCab2.0 3 g.77736559C>T 2017 28856698
OMIA 000209-9796 horse Thoroughbred Coat colour, dominant white KIT W25 missense unknown EquCab2.0 3 g.77769878A>G c.668T>C p.Leu223Pro 2018 29333746
OMIA 000245-9796 horse Bashkir Curly Horse Curly Curly coat KRT25 Crd missense no EquCab2.0 11 g.21891160G>A c.266G>A p.R89H 2017 29141579 Variant coordinates obtained from and/or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001677-9796 horse American Saddlebred Epidermolysis bullosa, junctionalis, LAMA3-related LAMA3 deletion, gross (>20) yes "6589-bp deletion spanning exons 24-27 . . . in the LAMA3 gene in American Saddlebred foals" 2009 19016681
OMIA 001678-9796 horse Belgian Italian draft horse Trait Breton Trait Comtois Epidermolysis bullosa, junctionalis, LAMC2-related LAMC2 insertion, small (<=20) yes c.1368insC 2002 12230513
OMIA 001715-9796 horse Numerous breeds Gaitedness LOC100147177 nonsense (stop-gain) no 23 g.22999655C>A p.S301* 2012 22932389
OMIA 002021-9796 horse Quarter Horse Coat colour, brindle 1 MBTPS2 splicing no c.1437+4T>C 2016 27449517
OMIA 001199-9796 horse Coat colour, chesnut MC1R missense no EquCab2 3 g.36259552C>T c.248C>T p.S83F 1996 8995760 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001199-9796 horse Coat colour, chesnut MC1R missense no EquCab2 3 g.36259554G>A c.250G>A p.D84N 2000 11086549 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000214-9796 horse American Standardbred White MITF MITF^244Glu missense no EquCab2 16 g.20094630C>T c.731G>A p.G244E 2017 27592871 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000214-9796 horse Franches-Montagnes Macchiato MITF macchiato missense no EquCab2 16 g.20103081 c.629A>G p.N210S 2012 22511888 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000214-9796 horse Quarter Horse Splashed white MITF SW3 deletion, small (<=20) no EquCab2 16 g.20105348 c.519_523delGTGTC p.C174Sfs*20 2012 22511888 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000214-9796 horse American Miniature Horse American Paint Horse Appaloosa Icelandic Morgan Old-Tori Quarter Horse Shetland Pony Trakehner Splashed white MITF SW1 indel, small (<=20) no EquCab2 16 g.20117302Tdelins11 2012 22511888 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000214-9796 horse Menorca White splashing MITF regulatory no EquCab2 16 g.20147039C>T 2017 28084638
OMIA 001538-9796 horse Racing distance MSTN regulatory no EquCab2 18 g.66493737C>T 2010 20932346 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000175-9796 horse Arabian Bashkir Curly Horse Welsh Pony Cerebellar abiotrophy MUTYH regulatory yes A SNP "located in exon 4 of TOE1 and approximately 1200 base pairs upstream of MUTYH, adjacent to a possible binding site for the transcription factor GATA2" 2011 21126570
OMIA 002141-9796 horse Quarter Horse Immune-mediated myositis MYH1 missense yes EquCab3.0 11 g.53345548T>C p.E321G The location of this likely causal variant was given as chr11:52,993,878T>C by Finno et al. (2018) in relation to the EquCab2.0 assembly. Applying NCBI's remap gives the EquCab3.0 coordinate as chr11:53,345,548 2018 29510741
OMIA 001501-9796 horse Arabian Lavender foal syndrome MYO5A deletion, small (<=20) yes g.138235715delC 2010 20419149
OMIA 001688-9796 horse Lipizzan Noriker Quarter Horse Splashed white PAX3 SW2 missense no EquCab2 6 g.11429753G>A c.209G>A p.C70Y 2012 22511888 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 001688-9796 horse Appaloosa Splashed white PAX3 missense no EquCab2.0 6 g.11429867G>C c.95C>G p.Pro32Arg 2013 23659293
OMIA 001982-9796 horse Warmblood Ehlers-Danlos Syndrome, type VI PLOD1 missense yes EquCab2 2 g.39711930G>A c.2032G>A p.G678R 2015 25637337 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001438-9796 OMIA 000733-9796 horse American Miniature Horse Icelandic Rocky Mountain Coat colour, silver AND Multiple congenital ocular anomalies PMEL missense no g.73665304C>T p.R625C 2006 17029645
OMIA 000327-9796 horse American Quarter Horse Ehlers-Danlos syndrome PPIB missense yes EquCab2 1 g.128056148G>A c.115G>A p.G39R 2007 17498917 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000220-9796 horse Arabian Severe combined immunodeficiency disease, autosomal PRKDC deletion, small (<=20) yes a 5bp deletion giving rise to a frameshift in PRKDC 1997 9103416
OMIA 000621-9796 horse American Quarter Horse Malignant hyperthermia RYR1 missense yes c.7360C>G p.R2454G 2004 15318347
OMIA 000785-9796 horse Quarter Horse Periodic paralysis II SCN4A missense yes c.C>G p.F1412L 1992 1338908
OMIA 001897-9796 horse Connemara pony Hoof wall separation syndrome SERPINB11 insertion, small (<=20) yes EquCab2 8 g.80111598_80111599insC c.504_505insC 2015 25875171
OMIA 002013-9796 horse Shetland Pony Skeletal atavism SHOX deletion, gross (>20) yes "two partially overlapping large deletions [are] in the pseudoautosomal region (PAR) of chromosome X/Y"; "One of the identified deletions removes the entire coding region of the short stature homeobox (SHOX) gene and both deletions remove parts of the cytokine receptor-like factor 2 (CRLF2) gene located downstream of SHOX." 2016 27207956
OMIA 002124-9796 horse Paso Fino Tiger eye SLC24A5 Tiger-eye 2 deletion, gross (>20) yes EquCab2 1 g.141660611_141661239del c.875-340_1081+82del 2017 28655738
OMIA 002124-9796 horse Paso Fino Tiger eye SLC24A5 Tiger-eye 1 missense yes EquCab2 1 g.141677402A>T c.272A>T p.Phe91Tyr 2017 28655738 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001263-9796 horse Coat colour, champagne SLC36A1 missense no EquCab2 14 g.26701092C>G c.188C>G p.T63R 2008 18802473 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001344-9796 horse Coat colour, cream dilution SLC45A2 missense no EquCab2 21 g.30666626G>A c.457G>A p.D153N 2003 12605854 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001578-9796 horse Dales Pony Fell Pony Foal immunodeficiency syndrome in the Fell and Dales Pony SLC5A3 missense yes EquCab2 26 g.30660224G>T c.1337G>T p.P446L 2011 21750681 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001230-9796 horse Standardbred Ovotesticular DSD (Disorder of Sexual Development) SRY deletion, gross (>20) yes "at least the DNA-binding domain of the SRY gene was deleted from the Y chromosome of the XY mare" 1995 7558880
OMIA 002096-9796 horse Akhal-Teke Naked foal syndrome ST14 nonsense (stop-gain) yes EquCab2 7 c.388G>T p.E130* 2017 28235824
OMIA 001356-9796 horse Coat colour, grey/gray STX17 duplication no a 4.6kb intronic duplication in the gene for syntaxin-17 (STX17). This duplication appears to increase the expression of both syntaxin-17 and a neighbouring gene NR4A3, 2008 18641652
OMIA 001341-9796 OMIA 002139-9796 horse American Miniature Horse Appaloosa Australian Spotted Pony British Spotted Pony Knabstrupper Noriker Pony of the Americas Thoroughbred Stationary congenital night blindness & Leopard Complex/Appaloosa spotting TRPM1 insertion, gross (>20) no EquCab2 1 g.108297929_108297930ins1378 "a 1378 bp retroviral LTR insertion in intron 1 of TRPM1" 2013 24167615
Overall Statistics
Total number of variants 80
Variants with genomic location 56 (70.0% )
Variants in a variant database, i.e. with rs ID 1 (1.2%)
Variant Type Count Percent
deletion, gross (>20) 8 10.0%
deletion, small (<=20) 10 12.5%
duplication 1 1.2%
indel, small (<=20) 1 1.2%
insertion, gross (>20) 1 1.2%
insertion, small (<=20) 2 2.5%
missense 36 45.0%
nonsense (stop-gain) 7 8.8%
regulatory 4 5.0%
splicing 10 12.5%
Year First Reported Count Percent
1992 1 1.2%
1993 0 0.0%
1994 0 0.0%
1995 1 1.2%
1996 1 1.2%
1997 1 1.2%
1998 1 1.2%
1999 0 0.0%
2000 1 1.2%
2001 1 1.2%
2002 1 1.2%
2003 1 1.2%
2004 2 2.5%
2005 1 1.2%
2006 2 2.5%
2007 6 7.5%
2008 3 3.8%
2009 8 10.0%
2010 3 3.8%
2011 8 10.0%
2012 7 8.8%
2013 6 7.5%
2014 0 0.0%
2015 4 5.0%
2016 4 5.0%
2017 13 16.2%
2018 4 5.0%