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: rs1057519786
rs1057519786
0.882 0.160 X 47566722 missense variant C/G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.700 1.000 2 2014 2016
dbSNP: rs1057519786
rs1057519786
0.882 0.160 X 47566722 missense variant C/G;T snv
Papillary renal cell carcinoma, sporadic
0.700 1.000 1 2016 2016
dbSNP: rs1057519786
rs1057519786
0.882 0.160 X 47566722 missense variant C/G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016