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: rs199422309
rs199422309
TERT
2 0.925 0.120 5 1294770 splice donor variant C/T snv 0.700 0
dbSNP: rs199701877
rs199701877
TERT
2 0.925 0.200 5 1294048 missense variant C/T snv 2.8E-04 1.7E-04 0.010 1.000 1 2008 2008
dbSNP: rs35719940
rs35719940
TERT
3 0.925 0.160 5 1254479 missense variant C/T snv 1.2E-02 1.3E-02 0.700 0
dbSNP: rs373400596
rs373400596
TERT
1 1.000 0.120 5 1255294 missense variant C/G snv 9.3E-05 4.2E-05 0.700 0
dbSNP: rs387907247
rs387907247
TERT
2 0.925 0.120 5 1294826 missense variant A/T snv 0.700 0
dbSNP: rs745590324
rs745590324
TERT
1 1.000 0.120 5 1279363 missense variant G/A;C snv 5.7E-06 7.0E-06 0.700 0
dbSNP: rs886039438
rs886039438
TERT
2 0.925 0.360 5 1282498 missense variant G/A snv 7.0E-06 0.010 < 0.001 1 2013 2013