Gene: TERT ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.100 0.900 10 2010 2018
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.070 1.000 7 2012 2018
dbSNP: rs2853669
rs2853669
TERT
35 0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 0.040 1.000 4 2015 2018
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.020 1.000 2 2013 2019
dbSNP: rs2853676
rs2853676
TERT
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.020 1.000 2 2012 2015
dbSNP: rs7726159
rs7726159
TERT
10 0.790 0.160 5 1282204 intron variant C/A snv 0.29 0.020 1.000 2 2015 2016
dbSNP: rs144779807
rs144779807
TERT
7 0.827 0.120 5 1268529 missense variant C/A;T snv 4.0E-06; 4.0E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs2242652
rs2242652
TERT
16 0.724 0.400 5 1279913 intron variant G/A snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs2735940
rs2735940
TERT
25 0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs2853677
rs2853677
TERT
19 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 0.010 1.000 1 2012 2012