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74 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 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 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 Androgen insensitivity syndrome (AIS) AR regulatory yes c.1A>G mutation in start codon 2012 22095250
OMIA 000991-9796 horse 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 Myotonia CLCN1 missense yes c.1775A>C p.D592A 2012 22197188
OMIA 000735-9796 horse 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 Quarter Horse 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 Glycogen storage disease IV GBE1 nonsense (stop-gain) yes c.102C>A p.Y34* 2004 15366377
OMIA 001158-9796 horse 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 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 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 Thrombasthenia ITGA2B deletion, small (<=20) yes "A 10-base-pair deletion" 2007 17338169
OMIA 001000-9796 horse Thrombasthenia ITGA2B missense yes c.G>C p.R41P 2006 16407493
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 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 Quarter Horse Coat colour, dominant white KIT sabino 1 splicing no Equ cab 2 3 g.77735520A>T 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 000245-9796 horse Curly coat KRT25 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 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 Epidermolysis bullosa, junctionalis, LAMC2-related LAMC2 insertion, small (<=20) yes c.1368insC 2002 12230513
OMIA 001715-9796 horse Gaitedness LOC100147177 nonsense (stop-gain) no p.S301* 2012 22932389
OMIA 002021-9796 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 001688-9796 horse Franches-Montagnes Coat colour, 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 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 White splashing MITF regulatory no EquCab2 3 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 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 001501-9796 horse Arabian Lavender foal syndrome MYO5A deletion, small (<=20) yes g.138235715delC 2010 20419149
OMIA 001688-9796 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 001982-9796 horse 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 horse Coat colour, silver PMEL missense no p.R618C 2006 17029645
OMIA 000327-9796 horse American Quarter 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 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 Malignant hyperthermia RYR1 missense yes c.7360C>G p.R2454G 2004 15318347
OMIA 000785-9796 horse Periodic paralysis II SCN4A missense yes c.C>G p.F1412L 1992 1338908
OMIA 002013-9796 horse 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 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 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 Shetland 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 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 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 horse Stationary congenital night blindness & Leopard Complex/Appaloosa spotting TRPM1 insertion, gross (>20) no "a 1378 bp retroviral LTR insertion in intron 1 of TRPM1" 2013 24167615
Overall Statistics
Total number of variants 74
Variants with genomic location 51 (68.9% )
Variants in a variant database, i.e. with rs ID 1 (1.4%)
Variant Type Count Percent
deletion, gross (>20) 8 10.8%
deletion, small (<=20) 9 12.2%
duplication 1 1.4%
indel, small (<=20) 1 1.4%
insertion, gross (>20) 1 1.4%
insertion, small (<=20) 1 1.4%
missense 32 43.2%
nonsense (stop-gain) 7 9.5%
regulatory 4 5.4%
splicing 10 13.5%
Year First Reported Count Percent
1992 1 1.4%
1993 0 0.0%
1994 0 0.0%
1995 1 1.4%
1996 1 1.4%
1997 1 1.4%
1998 1 1.4%
1999 0 0.0%
2000 1 1.4%
2001 1 1.4%
2002 1 1.4%
2003 1 1.4%
2004 2 2.7%
2005 1 1.4%
2006 2 2.7%
2007 6 8.1%
2008 3 4.1%
2009 8 10.8%
2010 3 4.1%
2011 8 10.8%
2012 7 9.5%
2013 5 6.8%
2014 0 0.0%
2015 3 4.1%
2016 4 5.4%
2017 13 17.6%