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91 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 001089-9541 crab-eating macaque Blood group system ABO ABO missense no 1998 9583803
OMIA 001089-9544 Rhesus monkey Blood group system ABO ABO missense no 266; 268 1998 9583803
OMIA 001089-9579 agile gibbon Blood group system ABO ABO missense no c.2178C>A and c.2185G>C 2009 19298858
OMIA 001089-9580 common gibbon Blood group system ABO ABO missense no c.2178C>A and c.2185G>C 2009 19298858
OMIA 001089-9598 chimpanzee Blood group system ABO ABO deletion, small (<=20) no c.514_522delGTGCTGGAG p.172-174delVLE 1999 10380696
OMIA 001089-9598 chimpanzee Blood group system ABO ABO missense no c.791A>C p.Y264C 1999 10380696
OMIA 000201-10042 North American deer mouse New Hampshire Melanic (non-agouti) ASIP deletion, gross (>20) no "a 125-kb deletion, which includes the upstream regulatory region and exons 1 and 2 of Agouti, results in a loss of Agouti expression" 2009 19649329
OMIA 000201-9627 red fox Coat colour, agouti ASIP deletion, gross (>20) no "A deletion in the first coding exon of the agouti gene" 1997 9054949
OMIA 000201-61386 Kodkod Coat colour, agouti ASIP missense no p.C126Y 2015 25695801
OMIA 000201-61406 Colocolo Coat colour, agouti ASIP missense no p.R120C 2015 25695801
OMIA 000201-10042 North American deer mouse Alaska Melanic (non-agouti) ASIP nonsense (stop-gain) no c.193?>? p.Q65* 2009 19649329
OMIA 000201-9691 leopard Black panther ASIP nonsense (stop-gain) no c.333C>A p.C111* 2012 23251368
OMIA 000201-9793 ass No light points ASIP NLP missense no c.349T>C p.C117R 2015 25887951
OMIA 000201-61455 Asiatic golden cat Coat colour, agouti ASIP missense no c.384C>G p.C128W 2012 23251368
OMIA 000201-9838 Arabian camel Black and dark-brown coat colour ASIP haplotype no KU179868 c.[23delT;c.25G>A] As described by Almathen et al. (2018), this haplotype comprises "a 1-bp deletion (23delT/T) and a SNP (25G/A) in exon 2 of ASIP". 2018 29893870
OMIA 001416-9612 gray wolf Coat colour, dominant black CBD103 deletion, small (<=20) no 3bp deletion of the CBD103 gene 2009 19197024
OMIA 001416-9614 coyote Coat colour, dominant black CBD103 deletion, small (<=20) no 3bp deletion of the CBD103 gene 2009 19197024
OMIA 001890-198806 Male body size/courtship behaviour CENPN inversion unknown "a 4.5Mb inversion on the ruff orthologue of chicken chromosomr GGA11 which, due to the well-known lethality of recombinants within an inversion, has created a supergene determining male breeding behaviour, body size and plumage colour" 2016 26569123
OMIA 000698-89462 water buffalo Myotonia CLCN1 splicing yes c.396C>T 2013 23339992
OMIA 002159-9694 tiger Golden tiger CORIN missense no c.1759C >T p.H587Y 2017 28281538
OMIA 001695-8090 Japanese medaka Reduced scale-3 edar insertion, gross (>20) yes "several kb of extra sequence in the 5' UTR that . . . contains out-of-frame start codons and stop codons, [and consequently] the mutant transcript is likely to result in premature initiation and termination of translation and, as a result, the EDAR protein is not synthesized" 2001 11516953
OMIA 000240-8932 rock pigeon Crest EPHB2 missense no p.R758C 2013 23371554
OMIA 000361-9783 Asiatic elephant Factor VII deficiency F7 missense yes c.202A>G p.R68G 2017 28118558
OMIA 000439-9844 llama Long hair FGF5 complex rearrangement no A "a single base deletion (c.348delA), [and] a 12-bp insertion (c.351_352insCATATAACATAG)" that comprise a single likely causal variant 2017 29024003
OMIA 000439-9793 ass Hair, long FGF5 nonsense (stop-gain) no c.245G > A 2014 25927731
OMIA 000439-10141 domestic guinea pig Long hair Fgf5 nonsense (stop-gain) no c.403C>T p.Arg135* "The data were submitted to the European Variation Archive (accession no. PRJEB24997)" 2018 29603294
OMIA 000439-9793 ass Hair, long FGF5 deletion, small (<=20) no c.433_434delAT 2014 25927731
OMIA 000439-9844 llama Long hair FGF5 nonsense (stop-gain) no c.499C>T 2017 29024003
OMIA 000578-9544 Rhesus monkey Krabbe disease GALC deletion, small (<=20) yes c.387delAC 1997 9192853
OMIA 001920-27706 largemouth bass Abortion due to deletion in GHRH GHRH deletion, gross (>20) yes a 66bp deletion (c.-923_-858del) in the 5' flanking region of the GHRH gene in an autosomal recessive embryonic lethal 2014 24697798
OMIA 002116-69293 three-spined stickleback Coat colour, albinism, oculocutaneous, HPS5-related Hps5 casper insertion, small (<=20) yes "casper mutants have an insertion of a single nucleotide in the 6th exon of Hsp5, predicted to generate an early frameshift" 2017 28739598
OMIA 001348-9544 Rhesus monkey Atrichia with papular lesions HR nonsense (stop-gain) yes MMUL_1 8 g.22046679C>T c.1831C>T p.R611* 2002 11831740 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001675-61379 black-footed cat Cone-rod dystrophy 2 IQCB1 deletion, small (<=20) yes c.1282delCT p.L428* 2017 28322220
OMIA 001737-9838 Arabian camel Coat colour, white spotting, KIT-related KIT deletion, small (<=20) no c.1842delG p.M614IfsX5 2017 28282952
OMIA 000209-494514 Arctic fox Coat colour, dominant white KIT splicing no c.1867+1G>T 2013 24308634
OMIA 001737-9793 ass Coat colour, white spotting, due to KIT KIT splicing no c.1978+2T>A 2015 25818843
OMIA 000209-9793 ass Coat colour, dominant white KIT missense no c.662A>C p.Y221S 2015 25818843
OMIA 001721-32536 cheetah Coat colour, king LVRN insertion, small (<=20) no p.N977Kfs110 2012 22997338
OMIA 000185-452646 American mink Chediak-Higashi syndrome LYST deletion, small (<=20) yes c.9468delC 2013 22762706
OMIA 000625-10141 domestic guinea pig Mannosidosis, alpha Man2b1 missense yes c.679C>T p.R227W 2002 11959458
OMIA 001199-30640 gray squirrel Coat colour, extension MC1R deletion, gross (>20) no MC1R-Δ24 allele E^B ["at amino acid positions 87-94"] 2009 19643815
OMIA 001199-10141 domestic guinea pig Brown coat colopur MC1R e (MC1R*4) deletion, gross (>20) no Vidal (2018): "a deletion of 2760 bp, including the entire MC1R coding region" 2018 30101449
OMIA 002156-46218 Chinese painted quail Feather colour, Blue Face MC1R missense no Feather colour, Blue Face 2018 29974967
OMIA 001199-9627 red fox Coat colour, extension MC1R missense no p.C125R 1997 9054949
OMIA 001199-46844 Geoffroy's cat Coat colour, extension MC1R missense no p.C125R 2015 25695801
OMIA 001199-494514 Arctic fox Coat colour, extension MC1R missense no p.F280C 2005 15982782
OMIA 001199-494514 Arctic fox Coat colour, extension MC1R missense no p.G5C 2005 15982782
OMIA 002155-46218 Chinese painted quail Feather colour, Red Breasted MC1R missense no p.Pro292Leu 2018 29974967
OMIA 001199-89462 water buffalo Coat colour, extension MC1R missense no p.S104G 2010 20596837
OMIA 001199-9870 reindeer Coat colour, extension MC1R missense no c.218T>C p.M73T 2014 25039753
OMIA 001494-9103 turkey Feather colour, dominant black MC1R missense no c.364A>T p.I122F 2010 20634512
OMIA 001199-9627 red fox Coat colour, extension MC1R missense no c.373C>T p.C125R 2016 27072328
OMIA 001199-9793 ass miniature donkey Normand Red coat colour MC1R e missense no c.629T>C p.M210T 2014 25155046
OMIA 001199-10141 domestic guinea pig Brown coat colopur MC1R e (MC1R*2) missense no c.749T>C p.Leu250Gln 2018 30101449
OMIA 001199-9870 reindeer Coat colour, extension MC1R missense no c.839T>G p.F280C 2014 25039753
OMIA 001494-9103 turkey Feather colour, black-wing bronze MC1R missense no c.887C>T p.A296V 2010 20634512
OMIA 001494-9103 turkey Bronze feathers MC1R nonsense (stop-gain) no c.96G>A 2010 20634512
OMIA 001199-9838 Arabian camel White coat colour MC1R missense no KU179867 c.901C>T p.R301C 2018 29893870
OMIA 000214-89462 water buffalo Swamp White spotting MITF nonsense (stop-gain) no c.328C>T p.R110* 2015 26417640
OMIA 000214-89462 water buffalo Swamp White spotting MITF splicing no c.840+2T>A 2015 26417640
OMIA 002145-9544 Rhesus monkey Colorectal cancer, hereditary nonpolyposis, MLH1-related MLH1 nonsense (stop-gain) yes 2 Bray et al. (2018): "a de novo stop codon in the coding region of MLH1. This de novo stop codon occurs in exon 11 out of 19 in the MLH1 gene, and thus would produce a dramatically truncated and possibly non-functional protein" 2018 30108684
OMIA 002145-9544 Rhesus monkey Colorectal cancer, hereditary nonpolyposis, MLH1-related MLH1 deletion, small (<=20) yes 2 g.99,561,829–99,561,830 Brammer et al. (2018): "a heterozygous deletion in the putative promoter region of the MLH1 gene (rheMac2: 2:99,561,829– 99,561,830; hg19: ∼3:37,034,780; c.−258_259)" 2018 29490919
OMIA 000031-452646 American mink Coat colour, silver-blue MLPH deletion, gross (>20) no deletion of exon 8 2013 23747352
OMIA 002160-9544 Rhesus monkey Colorectal cancer, hereditary nonpolyposis, MSH6-related MSH6 missense unknown Dray et al. (2018): "a heterozygous missense mutation in MSH6 that has a CADD score of 22.8, indicating that it would be among the <1% most deleterious mutations possible in the human genome (if that variant occurred in the human MSH6 gene" 2018 30108684
OMIA 001342-8790 emu Mucopolysaccharidosis IIIB NAGLU deletion, small (<=20) yes c.1098_1099delGG 2001 11414757
OMIA 001771-7091 domestic silkworm "Ming" lethal egg NEWENTRY complex rearrangement yes an ~1.9 kb region from the 3' untranslated region of BmVMP23 to the forepart of BmEP80 was replaced by a >100 kb DNA fragment 2013 23262333
OMIA 002130-94885 corn snake Coat colour, oculocutaneous albinism, OCA2-related OCA2 insertion, gross (>20) yes LTR retrotransposon in the 11th intron 2015 26597053
OMIA 001545-30521 domestic yak Coat colour, dilution PMEL deletion, small (<=20) no c.50_52del p.Leu18de 2014 24989079
OMIA 000483-30521 domestic yak Polled, Mongolian allele POLLED P[sub]M or P[sub]219ID complex rearrangement no "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 000380-9103 turkey Commercial lines Feathering, Z-linked PRLR deletion, small (<=20) unknown Melgal5 Z g.9426018_9426022delTTGGT p.Glu726Aspfs*7 2018 29566646
OMIA 001821-8090 Japanese medaka Coat colour, albinism, oculocutaneous type IV slc45a2 complex rearrangement yes an inversion of 167 bp, an insertion of 48 bp, and a deletion of 172 bp 2008 18245373
OMIA 000213-74535 Bengal tiger Coat colour, white SLC45A2 missense no C>T p.A477V 2013 23707431
OMIA 001821-9593 western gorilla Coat colour, albinism, oculocutaneous type IV SLC45A2 missense yes gorGor3.1 17 g.59753498G>C c.1552G>C p.G518R 2013 23721540 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001617-32536 cheetah Sweet taste, lack TAS1R2 deletion, gross (>20) yes "a 247-base pair microdeletion in exon 3 and stop codons in exons 4 and 6" 2005 16103917
OMIA 001617-9694 tiger Sweet taste, lack TAS1R2 deletion, gross (>20) yes "a 247-base pair microdeletion in exon 3 and stop codons in exons 4 and 6" 2005 16103917
OMIA 000162-9103 turkey Cardiomyopathy, dilated TNNT2 splicing yes delGGGCTCCTC 2002 11886865
OMIA 000202-9669 domestic ferret Coat colour, albinism TYR deletion, gross (>20) yes "deletion of exon 4" 2007 17655555
OMIA 000202-8090 Japanese medaka Coat colour, albinism tyr insertion, gross (>20) yes a 1.9 kb fragment, corresponding to a novel transposable element (Tol1), has been inserted in exon 1 of the gene for tyrosinase 1995 8552044
OMIA 000202-8410 Japanese wrinkled frog Albinism TYR missense yes c.1127G>A p.Gly376Asp 2017 28674275
OMIA 000202-8409 dark-spotted frog Albinism TYR insertion, small (<=20) yes c.1244_1245insT 2017 28674275
OMIA 000202-452646 American mink Albinism TYR nonsense (stop-gain) yes c.138T>A p.C46* 2008 18822100
OMIA 000202-89462 water buffalo Albinism TYR nonsense (stop-gain) yes c.1431G>A p.W477* 2012 22817390
OMIA 000202-1772025 Rice frog Albinism TYR missense yes c.169G>A p.Gly57Arg 2017 28674275
OMIA 001497-452646 American mink Coat colour, Himalayan TYR missense no c.1835C>G p.H420Q 2009 19308642
OMIA 000202-9689 lion White lion TYR missense no c.260G>A p.Arg87Gln 2013 24045858
OMIA 000202-9793 ass Coat colour, albinism TYR missense yes c.604C>G p.H202D 2016 26763160
OMIA 000202-9515 Tufted capuchin Coat colour, albinism TYR nonsense (stop-gain) yes c.64C>T p.R22* 2017 28476152
OMIA 000202-8409 dark-spotted frog Albinism TYR deletion, small (<=20) yes c.682_684del p.228delLys 2017 28674275
OMIA 000202-10141 domestic guinea pig Coat colour, albinism Tyr missense no c.710A>G p.Asp237Gly PRJEB26285 2018 29947431
OMIA 000202-8409 dark-spotted frog Albinism TYR insertion, small (<=20) yes c.768_769insT 2017 28674275
OMIA 002061-345164 Saker falcon Feather colour, light brown TYRP1 complex rearrangement no c.79C>T and c.79_80insT in exon 1, resulting in "a frameshift change and a premature stop codon at position 81 of the deduced protein sequence, which in the wild-type form contains 536 amino acids. 2017 27611661
Overall Statistics
Total number of variants 91
Variants with genomic location 5 (5.5% )
Variants in a variant database, i.e. with rs ID 1 (1.1%)
Variant Type Count Percent
complex rearrangement 5 5.5%
deletion, gross (>20) 9 9.9%
deletion, small (<=20) 13 14.3%
haplotype 1 1.1%
insertion, gross (>20) 3 3.3%
insertion, small (<=20) 4 4.4%
inversion 1 1.1%
missense 38 41.8%
nonsense (stop-gain) 12 13.2%
splicing 5 5.5%
Year First Reported Count Percent
1995 1 1.1%
1996 0 0.0%
1997 3 3.3%
1998 2 2.2%
1999 2 2.2%
2000 0 0.0%
2001 2 2.2%
2002 3 3.3%
2003 0 0.0%
2004 0 0.0%
2005 4 4.4%
2006 0 0.0%
2007 1 1.1%
2008 2 2.2%
2009 8 8.8%
2010 4 4.4%
2011 0 0.0%
2012 4 4.4%
2013 9 9.9%
2014 7 7.7%
2015 9 9.9%
2016 3 3.3%
2017 15 16.5%
2018 12 13.2%