Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519853
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.740 0.800 4 2014 2018
dbSNP: rs1057519853
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 0.750 4 2014 2019
dbSNP: rs1057519853
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.030 1.000 3 2012 2018
dbSNP: rs1057519853
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 < 0.001 1 2018 2018
dbSNP: rs1057519853
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0018916
Disease: Hemangioma
Hemangioma 		0.010 1.000 1 2019 2019
dbSNP: rs1057519853
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0346392
Disease: Nevus of choroid
Nevus of choroid 		0.010 1.000 1 2019 2019