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: rs1057519881
rs1057519881
CDKN2A
0.776 0.240 9 21971111 missense variant T/C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913385
rs121913385
CDKN2A
0.763 0.240 9 21971112 missense variant G/A;C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs34968276
rs34968276
CDKN2A
0.776 0.240 9 21971110 stop gained G/A;C;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2016 2016