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75 variant records found

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

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 000328-9940 sheep White Dorper Ehlers-Danlos syndrome, type VII (Dermatosparaxis) ADAMTS2 nonsense (stop-gain) yes c.424G>T p.E142* XM_012156230:c.424G>T, XP_012011620:p.Glu142* (Joller et al., 2017) 2012 22497338
OMIA 000328-9940 sheep White Dorper Ehlers-Danlos syndrome, type VII (Dermatosparaxis) ADAMTS2 nonsense (stop-gain) yes c.805G>A p.V269M XM_012156230:c.805G>A, XP_012011620:p.Val269Met (Joller et al., 2017) 2015 25354687
OMIA 000662-9940 sheep Romney Marsh Motor neuron disease, lower AGTPBP1 missense yes c.2909G>C p.R970P 2012 22588130
OMIA 001672-9940 sheep Zwartbles Type 1 Primary Hyperoxaluria AGXT missense yes Oar_rambouillet_v1.0 1 g.801189C>T c.584G>A p.Cys195Tyr NC_040252.1: g.801189C>T; XM_027966918.1: c.584G>A; XP_027822719.1: p.Cys195Tyr (Letko et al., 2020) 2020 33003365
OMIA 000201-9940 sheep Merino White fleece ASIP Wt insertion, gross (>20) no a 190kb tandem duplication encompassing the ASIP gene, the neighbouring AHCY gene and the promoter for a third gene ITCH 2008 18493018
OMIA 000201-9940 sheep Recessive black ASIP a deletion, small (<=20) no g.100_105del 2019 31475378
OMIA 000201-9940 sheep Recessive black ASIP a missense no g.5172T>A 2019 31475378
OMIA 001885-9940 sheep Lacaune Fecundity, Lacaune, FecL B4GALNT2 regulatory no g.36938224T>A 2013 24086150
OMIA 001885-9940 sheep Lacaune Fecundity, Lacaune, FecL B4GALNT2 regulatory no g.37034573A>G 2013 24086150
OMIA 001079-9940 sheep Norwegian White Yellow fat BCO2 nonsense (stop-gain) yes Oar_v3.1 15 g.21947481C>T c.196C>T p.Q66* 2010 20122251 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002107-9940 sheep Tunisian Barbarine Fecundity, Barbarine, FecX(Bar) BMP15 complex rearrangement no "a composite polymorphism associating a single nucleotide substitution (c.301G > T), a 3 bp deletion (c.302_304delCTA) and a C insertion (c.310insC) in the ovine BMP15 cDNA leading to a frame shift at protein position 101" 2017 28506298
OMIA 001799-9940 sheep Olkuska Fecundity, Olkuska, FecX(O) BMP15 missense no c.1009A>C p.N337H 2013 23637641
OMIA 001719-9940 sheep Belclare Irish Cambridge Fecundity, Belclare, FecX(B) BMP15 missense no c.1100G>T p.S367I 2004 14627550
OMIA 001350-9940 sheep Romney Marsh High fecundity BMP15 FecX(H) nonsense (stop-gain) no c.1184C>T p.Q291* 2000 10888873
OMIA 001800-9940 sheep Rasa Aragonesa Fecundity, Rasa Aragonesa, FecX® BMP15 deletion, small (<=20) no c.525_541del17 p.Pro45Asnfs*54 2008 18355397
OMIA 000384-9940 sheep Irish Cambridge High fecundity BMP15 nonsense (stop-gain) no c.718C>T p.Q239* 2004 14627550
OMIA 001798-9940 sheep Grivette Fecundity, Grivette, FecX(Gr) BMP15 missense no c.950C>T p.T317I 2013 23637641
OMIA 001357-9940 sheep Lacaune Fecundity, Lacaune, FecX(L) BMP15 missense no c.G>A p.C321Y 2007 17038554
OMIA 000386-9940 sheep Romney Marsh Fecundity, Inverdale, FecX(I) BMP15 missense no c.T>A p.V299D 2000 10888873
OMIA 000383-9940 sheep Booroola Fecundity, Booroola BMPR1B FecB(B) missense no Oar_v3.1 6 g.29382188A>G c.914A>G p.Q305R 2001 11259271 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000698-9940 sheep Rasa Aragonesa Myotonia CLCN1 missense yes p.Q93K 2015 25744800
OMIA 001482-9940 sheep Borderdale Neuronal ceroid lipofuscinosis, 5 CLN5 splicing yes c.571+1G>A 2008 17988881
OMIA 001443-9940 sheep South Hampshire Neuronal ceroid lipofuscinosis CLN6 deletion, gross (>20) yes deletion of exon 1 2013 23338040
OMIA 001443-9940 sheep Merino Neuronal ceroid lipofuscinosis, 6 CLN6 missense yes c.184C>T p.R62C 2006 17046213
OMIA 001481-9940 sheep Awassi Achromatopsia-2 (day blindness) CNGA3 missense yes Oar_v4.0 3 g.102,602,387G>A c.1618G>A p.Gly540Ser 2017 28282490 Genomic coordinate kindly provided by Eyal Seroussi via Elisha Gootwine
OMIA 001481-9940 sheep Awassi Achromatopsia-2 (day blindness) CNGA3 nonsense (stop-gain) yes Oori1 scaffold00739 3 g.263,324C>T c.706C>T p.R236* In a pers. comm. to FN via Elisha Gootwine, Eyal Seroussi advises that the Oar_v4.0 assembly has errors in the region of of this mutation, such that it cannot be mapped onto that assembly. It can, however, be mapped on to the Ovis aries musimon sequence: "Exon 8 mutation is at position 263,324 in Ovis aries musimon unplaced genomic scaffold, alternate assembly Oori1 scaffold00739 (Sequence ID: NW_011942977.1 Length: 1056687)" 2010 19874885
OMIA 001354-9940 sheep Rambouillet Muscular hypertrophy (double muscling), Callipyge DLK1 regulatory unknown Oar_v4.0 18 g.64294536A>G "a single A/G polymorphism located at position 103,894 of GenBank AF354168 and position 267 of the GenBank STS AF401294" (Freking et al., 2002) "the CLPG mutation, an A to G transition in a highly conserved dodecamer motif located in the 90-Kb intergenic region separating the Delta-like 1 homologue (DLK1) and Gene trap locus 2 (GTL2) genes in the eponymous imprinted domain" (Xu et al., 2015; PubMed 26474044) In relation to the Oar_v4.0/oviAri4 genome assembly, the location of the causative SNP is OAR18:g.64294536A>G (Ross Tellam, pers. comm. to FN 5 Nov 2020) 2002 12368241
OMIA 001542-9940 sheep Corriedale Hypophosphatemic rickets, autosomal recessive, 1 DMP1 nonsense (stop-gain) yes 6 g.112,213,795C>T c.250C>T p.R145* 2011 21747952
OMIA 001765-9940 sheep Cameroon Waardenburg syndrome, type 4A EDNRB deletion, gross (>20) yes 10 "a deletion of about 110 kb on sheep chromosome [OVA]10, comprising the entire EDNRB gene" 2012 23300849
OMIA 000437-9940 sheep Swiss Alpine Haemophilia A F8 delins, small (<=20) yes c.3107del10ins11 2010 19943872
OMIA 001723-9940 sheep Romney Marsh Familial episodic ataxia FGF14 nonsense (stop-gain) yes Oar_v3.1 10 g.77593415C>T c.46C>T p.Q16* 2017 29253853
OMIA 001703-9940 sheep Suffolk Chondrodysplasia, Spider lamb FGFR3 missense yes c.1719T>A p.V700E 2006 16441300
OMIA 000405-9940 sheep Southdown Gaucher disease, type GBA missense yes Oar_v3.1 1 g.103978212G>A c.1142G>A p.C381Y rs429928390 2017 29023809 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000385-9940 sheep Cheviot Fecundity, Thoka, FecG(T) GDF9 missense no Oar_v3.1 5 g.41841117A>C c.1279A>C p.S427R 2009 19713444 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001801-9940 sheep Belclare Irish Cambridge Fecundity, High fertility, FecG(H) GDF9 missense no Oar_v3.1 5 g.41841212C>T c.1184C>T p.S395F 2004 14627550 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001763-9940 sheep Norwegian White Fecundity, Norwegian White Sheep GDF9 missense no Oar_v3.1 5 g.41841285G>A c.1111G>A p.V371M 2013 23280002 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001559-9940 sheep Brazilian Santa Inês Mexican Pelibuey Fecundity, Embrapa, FecG GDF9 FecG(E) missense no Oar_v3.1 5 g.41841362T>G c.1034T>G p.F345C 2020 31961953 20528846 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001961-9940 sheep Ile de France Fecundity, Vacaria, FecG(V) GDF9 missense no Oar_v3.1 5 g.41841453C>T c.943C>T p.R315C 2014 25039891 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000402-9940 sheep Romney Marsh Gangliosidosis, GM1 GLB1 missense yes c.G>T p.CxxxF 2012 Reference not in PubMed; see OMIA 000402-9940 for reference details
OMIA 001461-9940 sheep Jacob Gangliosidosis, GM2, type I (B variant) HEXA splicing yes c.1330G>C 2010 20817517
OMIA 001952-9940 sheep Altay Microtia HMX1 duplication yes He et al. (2020): "a 76 Bp Duplication of HMX1" 2020 31691317
OMIA 002229-9940 sheep Valle del Belice Hypotrichosis HR nonsense (stop-gain) yes Oar_v3.1 2 g.43224867C>T c. 1312C>T p.Q438* rs423413166 2003 12927087 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001528-9940 sheep Romane Fleece variation, woolly IRF2BP2 insertion, gross (>20) no Oarv3.1 25 2017 28379502
OMIA 001948-9940 sheep Churra Epidermolysis bullosa, junctionalis, ITGB4 ITGB4 deletion, small (<=20) yes Oar_v3.1 11 g.54849767_54849770del c.4412_4415del 2015 25955497
OMIA 001948-9940 sheep Mouton Vendeen Epidermolysis bullosa, junctionalis, ITGB4 ITGB4 nonsense (stop-gain) yes Oar_v4.0 11 g.54799925G>A c.2653C>T p.(Arg885*) c.2653C>T position is based on mRNA XM_015098951.1 2020 33225458
OMIA 001678-9940 sheep German Blackheaded Mutton Epidermolysis bullosa, junctionalis, LAMC2-related LAMC2 deletion, small (<=20) yes c.2746delCA p.A928X FM872310 c.2746delCA 2011 21573221
OMIA 001505-9940 sheep Swedish Landrace Neuronal ceroid lipofuscinosis, 10 LOC443060 missense yes c.934G>A p.D295N 2000 10856224
OMIA 001199-9940 sheep Valle del Belice Recessive pheomelanism MC1R e missense no c.199C>T p.R67C 2010 Reference not in PubMed; see OMIA 001199-9940 for reference details
OMIA 001199-9940 sheep Corriedale Dala Damara Merino Dominant black MC1R E^D missense no c.218T>A p.D121N 1999 9892731 c.218T>A obtained from Fontanesi et al. (2010); breeds obtained from Rochus et al. (2019)
OMIA 001199-9940 sheep Massese Dominant black MC1R E^D missense no c.361G>A p.M73K 1999 9892731 c.361G>A obtained from Fontanesi et al. (2010); breed obtained from Ruchus et al. (2019)
OMIA 001199-9940 sheep Gotland Gute Värmland Dominant black MC1R missense no c.452G>A 2019 31475378
OMIA 001199-9940 sheep Gute Helsinge Klövsjö Texel Värmland Dominant black MC1R missense no c.785C>T 2019 31475378
OMIA 000031-9940 sheep Jacob Lilac MLPH nonsense (stop-gain) no Oar_v4.0 1 g.3,451,931C>A p.(Glu14*) NC_019458.2:g.3451931C>A; NP_001139743.1:p.Glu14* (Posbergh et al., 2020) 2020 32512769
OMIA 001426-9940 sheep Texel Muscular hypertrophy (double muscling), Texel MSTN regulatory yes g+6223G>A c.*1232G>A "G to A transition in the 3' UTR that creates a target site for mir1 and mir206, microRNAs (miRNAs)" 2006 16751773
OMIA 001595-9940 sheep Merino Brachygnathia, cardiomegaly and renal hypoplasia syndrome OBSL1 deletion, small (<=20) yes Ovis aries Oar_v3.1 2 g.220,472,248delC c.1,716delC p.(Val573Trpfs*119) XM_027965226.1:c.1,716delC 2020 32933480
OMIA 002227-9940 sheep Istrian Pramenka Otocephaly OTX2 nonsense (stop-gain) yes Oar_rambouillet_v1.0 7 g.71478714G>A c.265C>T p.(Arg89*) Paris et al. (2020): XM_015097088.2:c.265C > T 2020 31969185
OMIA 000649-9940 sheep Texel Microphthalmia PITX3 missense yes Oar_v3.1 22 g.22045744G>C c.338G>C p.R113P 2010 20084168 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002105-9940 sheep Swaledale Neuroaxonal dystrophy, PLA2G6-related PLA2G6 nonsense (stop-gain) yes Oar_rambouillet_v1.0 3 g.230750869G>A c.1186C>T p.Gln396* Oar_rambouillet_v1.0: g.230750869G>A; XM_027968104.1 [shorter transcript] and XM_012175630.3 [longer transcript]: c.1186C>T; XP_027823905.1: p.Gln396* in the shorter transcript; XP_012031020.2: p.Leu396Phe in the longer transcript (Letko et al., 2020). Only the former variant peptide is tabulated here. 2020 33159255
OMIA 002105-9940 sheep Swaledale Neuroaxonal dystrophy, PLA2G6-related PLA2G6 splicing unknown Oar_rambouillet_v1.0 3 g.230766713T>C c.336-2A>G p.Leu71TrpfsTer3 Oar_rambouillet_v1.0: g.230766713T>C; XM_012175630.3: c.336-2A>G; XP_012031020.2: p.Leu71TrpfsTer3 (Letko et al., 2020) 2020 33159255
OMIA 000944-9940 sheep Ile de France Romanov Resistance to scrapie PRNP V missense yes Oarv3.1 13 g.46225660C>T c.407C>T p.A136V rs591379086 1993 8094373 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000944-9940 sheep Norwegian breeds Resistance to scrapie, Nor98 type PRNP F missense yes Oarv3.1 13 g.46225674C>T c.421C>T p.L141F rs598580733 2005 15604451 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000944-9940 sheep Ile de France Romanov Resistance to scrapie PRNP H missense yes Oarv3.1 13 g.46225714G>A c.461G>A p.R154H rs605048948 1993 8094373 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000944-9940 sheep Suffolk Resistance to scrapie PRNP Q missense yes Oarv3.1 13 g.46225765G>A c.512G>A p.R171Q rs160575103 1990 1969635 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001139-9940 sheep Glycogen storage disease V PYGM splicing yes a G>A substitution at the 3' splice site of intron 19 1997 9267848
OMIA 001867-9940 sheep Churra Lissencephaly and cerebellar hypoplasia RELN deletion, gross (>20) yes a deletion of 31 bp (c.5410_5440del) in predicted exon 36 of RELN, resulting in a premature termination codon 2013 24260534
OMIA 000483-9940 sheep Numerous breeds Polled RXFP2 insertion, gross (>20) unknown "1833-bp genomic insertion located in the 30-UTR region of RXFP2 present in polled animals only" 2015 26103004
OMIA 001400-9940 sheep Texel Chondrodysplasia, Texel SLC13A1 deletion, small (<=20) yes g.25513delT c.107delT JN108880: g.25513delT 2012 22742499
OMIA 001694-9940 sheep Polypay Rambouillet Resistance to lentivirus TMEM154 regulatory no NC_019477.1 17 g.29500068_29500069delAT 2013 24303974
OMIA 002176-9940 sheep Coopworth Perendale Meckel-like hepatorenal fibrocystic dysplasia syndrome TMEM67 haplotype yes OARv3.1 9 c.(2050T>A; 2068T>G p.(Ile681Asn; Ile687Ser) 2017 28487520
OMIA 002285-9940 sheep Merino Ovine congenital progressive muscular dystrophy TNNT1 deletion, small (<=20) yes Oar v3.1 14 g.59,437,065delG c.614+1delG "KT218690 c.614 + 1delG" (Clayton et al., 2020); Oar3.1 chr14: g.59556001delG and Oar4.0 chr14: g.59437065delG (Josh Clayton, pers comm., 7 Sep 2020) 2020 32819427
OMIA 001249-9940 sheep Brown TYRP1 missense no c.2240C>G p.A???V 2013 23451726
OMIA 001249-9940 sheep Valais Red Brown TYRP1 b^VS1 deletion, small (<=20) no Oar_rambouillet_v1.0 2 g.87,540,706_87,540,707delGA c.86_87delGA p.(Glu29ValfsTer5) NM_001130023.1: c.86_87delGA; NP_001123495.1: p.(Glu29ValfsTer5) 2019 31571241
OMIA 001249-9940 sheep Valais Red Brown TYRP1 b^VS2 nonsense (stop-gain) no Oar_rambouillet_v1.0 2 g.87,549,195C>T c.1066C>T p.(Arg356*) NM_001130023.1: c.1066C>T; NP_001123495.1: p.(Arg356*) 2019 31571241
OMIA 001249-9940 sheep Soay Tawny (light brown) TYRP1 b^Soay missense no Oar_v3.1 2 g.80608128G>T c. 869G>T p.C290F 2007 17254985 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001176-9940 sheep German Blackface Porphyria cutanea tarda urod missense yes Oar_v3.1 1 g.19437840T>C c.392T>C p.L131P rs429214636 2005 16026339 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
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Overall Statistics
Total number of variants 75
Variants with genomic location 34 (45.3% )
Variants in a variant database, i.e. with rs ID 7 (9.3%)
Variant Type Count Percent
complex rearrangement 1 1.3%
deletion, gross (>20) 3 4.0%
deletion, small (<=20) 8 10.7%
delins, small (<=20) 1 1.3%
duplication 1 1.3%
haplotype 1 1.3%
insertion, gross (>20) 3 4.0%
missense 34 45.3%
nonsense (stop-gain) 14 18.7%
regulatory 5 6.7%
splicing 4 5.3%
Year First Reported Count Percent
1990 1 1.3%
1991 0 0.0%
1992 0 0.0%
1993 2 2.7%
1994 0 0.0%
1995 0 0.0%
1996 0 0.0%
1997 1 1.3%
1998 0 0.0%
1999 2 2.7%
2000 3 4.0%
2001 1 1.3%
2002 1 1.3%
2003 1 1.3%
2004 3 4.0%
2005 2 2.7%
2006 3 4.0%
2007 2 2.7%
2008 3 4.0%
2009 1 1.3%
2010 6 8.0%
2011 3 4.0%
2012 5 6.7%
2013 9 12.0%
2014 1 1.3%
2015 4 5.3%
2016 0 0.0%
2017 6 8.0%
2018 0 0.0%
2019 6 8.0%
2020 9 12.0%