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15 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 | OMIA000201-9986 | 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 | OMIA000201-9986 | 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 | OMIA001079-9986 | rabbit | Yellow fat | BCO2 | deletion, small (<=20) | Naturally occurring variant | yes | 1 | delAAT | 2015 | 26002694 | |||||||||
| 629 | OMIA000017-9986 | rabbit | Adrenal hyperplasia, congenital | CYP11A1 | deletion, gross (>20) | Naturally occurring variant | yes | "a large deletion mutation in the P450scc gene" | 1993 | 7682938 | ||||||||||
| 689 | OMIA000299-9986 | rabbit | Dwarfism | HMGA2 | 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 | OMIA001160-9986 | 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 | OMIA001566-9986 | rabbit | Rex coat | LIPH | deletion, small (<=20) | Naturally occurring variant | no | 14 | c.1362delA | 2011 | 21552526 | |||||||||
| 448 | OMIA001199-9986 | rabbit | Dominant black or Steel | MC1R | E(D) or E(S) | deletion, small (<=20) | Naturally occurring variant | no | c.280_285del | 2006 | 16978179 | |||||||||
| 630 | OMIA001199-9986 | rabbit | Red/fawn/yellow | MC1R | e | deletion, gross (>20) | Naturally occurring variant | no | c.304_333del30 | 2006 | 16978179 | |||||||||
| 1160 | OMIA001199-9986 | 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 | OMIA000031-9986 | rabbit | Lionhead Dwarf Netherland Dwarf | Coat colour, dilute | MLPH | deletion, small (<=20) | Naturally occurring variant | no | g.549853delG | c.585delG | p.(L195Lfs*123) | 2013 | 24376820 | |||||||
| 248 | OMIA000770-9986 | rabbit | Tremor, X-linked | PLP1 | missense | Naturally occurring variant | yes | X | T>A | 1994 | 7525875 | |||||||||
| 1297 | OMIA002317-9986 | 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) | 2021 | 33764968 | |||||
| 247 | OMIA000202-9986 | rabbit | Coat colour, albinism | TYR | missense | Naturally occurring variant | yes | OryCun2.0 | 1 | g.127636997C>A | c.1118C>A | p.(T373K) | 2000 | 10920244 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||||
| 1058 | OMIA001249-9986 | rabbit | Brown | TYRP1 | nonsense (stop-gain) | Naturally occurring variant | no | 1 | g.41360196G>A | c.570G>A | p.(W190*) | 2014 | 24814776 |
| Overall Statistics | |
|---|---|
| Total number of variants | 15 |
| Variants with genomic location | 3 (20.0% ) |
| Variants in a variant database, i.e. with rs ID | 0 (0.0%) |
| Variant Type | Count | Percent |
|---|---|---|
| complex rearrangement | 1 | 6.7% |
| deletion, gross (>20) | 4 | 26.7% |
| deletion, small (<=20) | 5 | 33.3% |
| insertion, small (<=20) | 1 | 6.7% |
| missense | 2 | 13.3% |
| nonsense (stop-gain) | 1 | 6.7% |
| splicing | 1 | 6.7% |
| Year First Reported | Count | Percent |
|---|---|---|
| 1986 | 1 | 6.7% |
| 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 | 6.7% |
| 1994 | 1 | 6.7% |
| 1995 | 0 | 0.0% |
| 1996 | 0 | 0.0% |
| 1997 | 0 | 0.0% |
| 1998 | 0 | 0.0% |
| 1999 | 0 | 0.0% |
| 2000 | 1 | 6.7% |
| 2001 | 0 | 0.0% |
| 2002 | 0 | 0.0% |
| 2003 | 0 | 0.0% |
| 2004 | 0 | 0.0% |
| 2005 | 0 | 0.0% |
| 2006 | 2 | 13.3% |
| 2007 | 0 | 0.0% |
| 2008 | 0 | 0.0% |
| 2009 | 0 | 0.0% |
| 2010 | 2 | 13.3% |
| 2011 | 1 | 6.7% |
| 2012 | 0 | 0.0% |
| 2013 | 1 | 6.7% |
| 2014 | 1 | 6.7% |
| 2015 | 1 | 6.7% |
| 2016 | 0 | 0.0% |
| 2017 | 1 | 6.7% |
| 2018 | 0 | 0.0% |
| 2019 | 0 | 0.0% |
| 2020 | 1 | 6.7% |
| 2021 | 1 | 6.7% |