Gene: GNAQ ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514698
rs397514698
GNAQ
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519853
rs1057519853
GNAQ
0.010 GeneticVariation BEFREE Somatic GNAQ mutations (c.626A > T; p.Gln209Leu) were found in 100% (6 of 6) of the solitary choroidal hemangiomas and (c.626A > C; p.Gln209Pro) in the choroidal nevus. 30537484

2019
dbSNP: rs121913492
rs121913492
GNAQ
0.010 GeneticVariation BEFREE Somatic GNAQ mutations (c.626A > T; p.Gln209Leu) were found in 100% (6 of 6) of the solitary choroidal hemangiomas and (c.626A > C; p.Gln209Pro) in the choroidal nevus. 30537484

2019