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20 variant records found

[show instead phene records]

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID OMIA Phene-Species ID(s) Species Name Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Deleterious? Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
567 OMIA:000201-9986 rabbit New Zealand White (Rabbit) Black (non-agouti) ASIP a insertion, small (<=20) Naturally occurring variant no 4 c.5_6insA Letko et al. (2020): NM_001122939.1:c.5_6insA 2010 20004240
1134 OMIA:000201-9986 rabbit Black and tan ASIP a^t deletion, gross (>20) Naturally occurring variant no OryCun2.0 4 g.5455408_5466123del Letko et al. (2020): NC_013672.1:g.5,455,408_5,466,123del 2020 31729778
549 OMIA:001079-9986 rabbit Flemish Giant (Rabbit) New Zealand White (Rabbit) Yellow fat BCO2 deletion, small (<=20) Naturally occurring variant yes 1 delAAT 2015 26002694
629 OMIA:000017-9986 rabbit Adrenal hyperplasia, congenital CYP11A1 deletion, gross (>20) Naturally occurring variant yes "a large deletion mutation in the P450scc gene" 1993 7682938
1511 OMIA:002600-9986 rabbit New Zealand White (Rabbit) Amelogenesis imperfecta FAM83H deletion, gross (>20) Genome-editing (CRISPR-Cas9) yes large deletion of more then 900bp in exon 5 2022 36300761
1575 OMIA:000439-9986 rabbit Angora (Rabbit) Hair, long FGF5 missense Naturally occurring variant no OryCun2.0 15 g.70103616A>G c.571T>C p.(L191S) XM_008267686.2; XP_008265908.1; published as c.T19234C in exon 2; coordinates in this table are based on a recent reference genome 2023 37268908
689 OMIA:000299-9986 rabbit Dwarf, long-haired Holland Lop (Rabbit) Netherland dwarf (Rabbit) Dwarfism HMGA2 dw deletion, gross (>20) Naturally occurring variant yes 4 "that the dwarf allele constitutes a ~12.1 kb deletion overlapping the promoter region and first three exons of the HMGA2 gene leading to inactivation of this gene." 2017 27986804
449 OMIA:001160-9986 rabbit Hyperlipidaemia LDLR deletion, small (<=20) Naturally occurring variant yes "an in-frame deletion of 12 nucleotides that eliminates four amino acids from the cysteine-rich ligand binding domain of the LDL receptor" 1986 3010466
450 OMIA:001566-9986 rabbit Rex coat LIPH deletion, small (<=20) Naturally occurring variant no 14 c.1362delA 2011 21552526
1521 OMIA:001213-9986 rabbit Emery-Dreifuss muscular dystrophy LMNA missense Base-editing yes p.(L530P) 2022 35282412
448 OMIA:001199-9986 rabbit California (Rabbit) Champagne-Silberkaninchen, Germany (Rabbit) Checkered Giant Checkered Small Dutch (Rabbit) New Zealand White (Rabbit) White Giant (Rabbit) Dominant black or Steel MC1R E(D) or E(S) deletion, small (<=20) Naturally occurring variant no c.280_285del 2006 16978179
630 OMIA:001199-9986 rabbit Coloured dwarf Dutch (Rabbit) English Lop English Spot (Rabbit) Fauve de Borgogne (Rabbit) Lop Lop dwarf New Zealand Red (Rabbit) Saxon Gold Thüringer (Rabbit) Red/fawn/yellow MC1R e deletion, gross (>20) Naturally occurring variant no c.304_333del30 2006 16978179
1160 OMIA:001199-9986 rabbit Angora (Rabbit) Checkered Giant Dutch (Rabbit) Giant Grey Japanese (Rabbit) Rheinische Schecken (Rabbit) Japanese brindling MC1R eJ complex rearrangement Naturally occurring variant no c.[124G>A;125_130del6] "6 bp-in frame deletion flanked by a G > A transition in 5' (c.[124G>A;125_130del6]) that was present in all animals with Japanese brindling coat colour and pattern." (Fontanesi et al., 2010) 2010 20594318
932 OMIA:000031-9986 rabbit Lionhead Dwarf Loh Netherland dwarf (Rabbit) Coat colour, dilute MLPH deletion, small (<=20) Naturally occurring variant no OryCun2.0 NW_003159466.1 g.549853del c.586del p.(E196fs) NM_001297485.1; NP_001284414.1; published as g.549853delG, c.585delG, p.(L195Lfs*123) - information in this table has been updated to reflect HGVS nomenclature recommendations 2013 24376820
248 OMIA:000770-9986 rabbit Chinchilla (Rabbit) Tremor, X-linked PLP1 pt missense Naturally occurring variant yes X T>A 1994 7525875
1297 OMIA:002317-9986 rabbit Sauteur d'Alfort Sauteur RORB s^am splicing Naturally occurring variant yes OryCun2.0 1 g.61103503G>A This variant corresponds to a change from GT to AT in the 5’ donor site of intron 9 (Carneiro et al., 2021) rs3166922596 2021 33764968
247 OMIA:000202-9986 rabbit New Zealand White (Rabbit) Zika, Hungary (Rabbit) Coat colour, albinism TYR missense Naturally occurring variant yes OryCun2.0 1 g.127636997G>T c.1118C>A p.(T373K) NM_001082077.1; NP_001075546.1; the OryCun2.0 reference genome is from a white rabbit and reflects the albino coat colour g.127636997T; NM_001082077.1 and NP_001075546.1 reflect the wildtype allele. 2000 10920244
1520 OMIA:000202-9986 rabbit Oculocutaneous albinism TYR missense Base-editing no OryCun2.0 1 g.127650868T>C c.973A>G p.(T325A) NM_001082077.1; NP_001075546.1 2022 35282412
1058 OMIA:001249-9986 rabbit Havanna (Rabbit) Brown TYRP1 b nonsense (stop-gain) Naturally occurring variant no OryCun2.0 1 g.41359827C>T c.570G>A p.(W190*) NM_001297495.1; NP_001284424.1; published as g.41360196G>A, c.570G>A, p.Trp190ter but review of the genomic position suggests that the genomic location is OryCun2.0: chr1:41359827C>T 2014 24814776
1551 OMIA:002688-9986 rabbit Microcephaly, primary YIPF5 missense Base-editing yes p.(W218R) 2023 37142085
Overall Statistics
Total number of variants 20
Variants with genomic location 7 (35.0% )
Variants in a variant database, i.e. with rs ID 0 (0.0%)
Variant Type Count Percent
complex rearrangement 1 5.0%
deletion, gross (>20) 5 25.0%
deletion, small (<=20) 5 25.0%
insertion, small (<=20) 1 5.0%
missense 6 30.0%
nonsense (stop-gain) 1 5.0%
splicing 1 5.0%
Year First Reported Count Percent
1986 1 5.0%
1987 0 0.0%
1988 0 0.0%
1989 0 0.0%
1990 0 0.0%
1991 0 0.0%
1992 0 0.0%
1993 1 5.0%
1994 1 5.0%
1995 0 0.0%
1996 0 0.0%
1997 0 0.0%
1998 0 0.0%
1999 0 0.0%
2000 1 5.0%
2001 0 0.0%
2002 0 0.0%
2003 0 0.0%
2004 0 0.0%
2005 0 0.0%
2006 2 10.0%
2007 0 0.0%
2008 0 0.0%
2009 0 0.0%
2010 2 10.0%
2011 1 5.0%
2012 0 0.0%
2013 1 5.0%
2014 1 5.0%
2015 1 5.0%
2016 0 0.0%
2017 1 5.0%
2018 0 0.0%
2019 0 0.0%
2020 1 5.0%
2021 1 5.0%
2022 3 15.0%
2023 2 10.0%