Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
MC1R p.Val92Met (p.V92M), ENSG00000198211 p.Val92Met (p.V92M)
(
ENST00000555147.2,
ENST00000555427.1,
ENST00000639847.1 )
MC1R p.Val92Leu (p.V92L), ENSG00000198211 p.Val92Leu (p.V92L) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Val92Met (p.V92M), ENSG00000198211 p.Val92Met (p.V92M) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Val92Leu (p.V92L), ENSG00000198211 p.Val92Leu (p.V92L) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 ) - Associated Disease
- VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
- Source Database
- DisGeNET
- Description
- Carriage of the G allele was higher in vitiligo patients [P = 0.17, OR (95% CI) = 1.50 (0.83-2.72)], and those who also carried MC1R Val92Met were more prone to vitiligo [eight of 111 patients vs. four of 111 in controls, P = 0.14, OR (95% CI) = 2.75 (0.71-8.69)].
- Pubmed
- 12859622
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2003
Drugs