Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913492
rs121913492
GNAQ
CUI: C0025202
Disease: melanoma
melanoma 		A 0.740 CausalMutation CLINVAR Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540

2012
dbSNP: rs121913492
rs121913492
GNAQ
CUI: C0025202
Disease: melanoma
melanoma 		A 0.740 CausalMutation CLINVAR The protein kinase C inhibitor enzastaurin exhibits antitumor activity against uveal melanoma. 22253748

2012