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2 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
540 OMIA001545-30521 domestic yak Coat colour, dilution PMEL deletion, small (<=20) Naturally occurring variant no c.50_52del p.(L18del) 2014 24989079
845 OMIA000483-30521 domestic yak Polled, Mongolian allele POLLED P[sub]M or P[sub]219ID complex rearrangement Naturally occurring variant 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
Overall Statistics
Total number of variants 2
Variants with genomic location 0 (0.0% )
Variants in a variant database, i.e. with rs ID 0 (0.0%)
Variant Type Count Percent
complex rearrangement 1 50.0%
deletion, small (<=20) 1 50.0%
Year First Reported Count Percent
2014 1 50.0%
2015 0 0.0%
2016 0 0.0%
2017 1 50.0%