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: rs2736098
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.040 1.000 4 2013 2017
dbSNP: rs1346044973
rs1346044973
TERT
0.851 0.160 5 1294158 missense variant G/A snv 1.1E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs2736100
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2016 2016