Source: CLINVAR

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: rs1057519742
rs1057519742
GNA11
0.827 0.160 19 3118944 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.750 1.000 5 1989 2018
dbSNP: rs1057519742
rs1057519742
GNA11
0.827 0.160 19 3118944 missense variant A/C;T snv
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.730 1.000 3 2011 2018
dbSNP: rs1057519742
rs1057519742
GNA11
0.827 0.160 19 3118944 missense variant A/C;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016