Annotation Detail

Information
Associated Genes
OCA2
Associated Variants
OCA2 p.Ala481Thr (p.A481T) ( ENST00000354638.8, ENST00000353809.9 )
OCA2 p.Ala481Thr (p.A481T) ( ENST00000353809.9, ENST00000354638.8 )
Associated Disease
actinic keratosis
Source Database
DisGeNET
Description
Another non-synonymous variant, A481T in OCA2, was associated with the risk of squamous cell carcinoma and actinic keratosis in the Osaka group (OR, 3.16; 95% CI, 1.41-7.04; P = 0.005).
Pubmed
24617981
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2014
Drugs