GNAQ, G protein subunit alpha q, 2776

N. diseases: 219; N. variants: 7
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913492
rs121913492
0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.740 1.000 12 1989 2018
dbSNP: rs1057519853
rs1057519853
0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.030 1.000 3 2012 2018