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5 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
1270 OMIA000213-89462 water buffalo White ASIP insertion, gross (>20) Naturally occurring variant no UOA_WB_1 14 "2,809-bp-long LINE-1 insertion in the ASIP (agouti signaling protein) gene" (Liang et al. (2020) 2021 33212507
399 OMIA000698-89462 water buffalo Myotonia CLCN1 splicing Naturally occurring variant yes c.396C>T 2013 23339992
341 OMIA000214-89462 water buffalo Swamp White spotting MITF nonsense (stop-gain) Naturally occurring variant no c.328C>T p.(R110*) 2015 26417640
409 OMIA000214-89462 water buffalo Swamp White spotting MITF splicing Naturally occurring variant no c.840+2T>A 2015 26417640
329 OMIA000202-89462 water buffalo Albinism TYR nonsense (stop-gain) Naturally occurring variant yes c.1431G>A p.(W477*) 2012 22817390
Overall Statistics
Total number of variants 5
Variants with genomic location 1 (20.0% )
Variants in a variant database, i.e. with rs ID 0 (0.0%)
Variant Type Count Percent
insertion, gross (>20) 1 20.0%
nonsense (stop-gain) 2 40.0%
splicing 2 40.0%
Year First Reported Count Percent
2012 1 20.0%
2013 1 20.0%
2014 0 0.0%
2015 2 40.0%
2016 0 0.0%
2017 0 0.0%
2018 0 0.0%
2019 0 0.0%
2020 0 0.0%
2021 1 20.0%