TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: Liver carcinoma ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554040964
rs1554040964 		1.000 0.080 5 1279417 missense variant C/G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2013 2017
dbSNP: rs1554043088
rs1554043088 		1.000 0.080 5 1294548 frameshift variant -/C delins
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1554043124
rs1554043124 		1.000 0.080 5 1294790 missense variant G/A snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2736098
rs2736098 		0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.040 1.000 4 2013 2017
dbSNP: rs1346044973
rs1346044973 		0.851 0.160 5 1294158 missense variant G/A snv 1.1E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2736100
rs2736100 		0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2853669
rs2853669 		0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016