TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: Adenocarcinoma ×
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: rs2736100
rs2736100 		0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.080 1.000 8 2009 2016
dbSNP: rs2736098
rs2736098 		0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.020 1.000 2 2013 2014
dbSNP: rs112290073
rs112290073 		0.882 0.080 5 1285917 intron variant G/A snv 7.8E-03
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs138895564
rs138895564 		0.882 0.080 5 1271959 intron variant C/T snv 5.1E-03
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2853669
rs2853669 		0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2853676
rs2853676 		0.667 0.560 5 1288432 intron variant T/A;C snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2853677
rs2853677 		0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs61748181
rs61748181 		0.827 0.120 5 1294051 missense variant C/T snv 2.2E-02 2.2E-02
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2016 2016