Annotation Detail
Information
- Associated Genes
- IRF4
- Associated Variants
-
RALY c.877-563A>G
(
ENST00000246194.8,
ENST00000375114.7 )
IRF4 c.492+386C>T ( ENST00000380956.9, ENST00000696871.1 )
RALY c.877-563A>G ( ENST00000246194.8, ENST00000375114.7 )
IRF4 c.492+386C>T ( ENST00000380956.9, ENST00000696871.1 ) - Associated Disease
- Spot pigmented
- Source Database
- DisGeNET
- Description
- We identified genome-wide significant association with pigmented spots at three genetic loci: IRF4 (rs12203592, P=1.8 × 10(-27)), MC1R (compound heterozygosity score, P=2.3 × 10(-24)), and RALY/ASIP (rs6059655, P=1.9 × 10(-9)).
- Pubmed
- 25705849
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2015
Drugs