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: rs121918665
rs121918665
TERT
2 0.925 0.120 5 1264541 missense variant C/G snv 4.0E-06 0.800 1.000 3 2005 2011
dbSNP: rs770066110
rs770066110
TERT
1 1.000 5 1272247 stop gained G/A;T snv 5.3E-05; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs776981958
rs776981958
TERT
2 0.925 5 1279370 missense variant T/C snv 1.6E-04 1.3E-04 0.700 1.000 1 2018 2018
dbSNP: rs1060502990
rs1060502990
TERT
2 0.925 0.040 5 1294549 frameshift variant -/G delins 0.700 0
dbSNP: rs1176273130
rs1176273130
TERT
1 1.000 5 1253748 missense variant A/G snv 0.700 0
dbSNP: rs1554038257
rs1554038257
TERT
2 0.925 0.040 5 1255333 frameshift variant GA/- delins 0.700 0
dbSNP: rs1554042899
rs1554042899
TERT
2 0.925 0.040 5 1293837 frameshift variant AG/- delins 0.700 0
dbSNP: rs1554043139
rs1554043139
TERT
2 0.925 0.040 5 1294810 stop gained C/G;T snv 0.700 0
dbSNP: rs199422294
rs199422294
TERT
5 0.827 0.160 5 1280216 missense variant C/T snv 0.700 0
dbSNP: rs199422299
rs199422299
TERT
2 0.925 0.120 5 1278765 missense variant G/C snv 0.700 0
dbSNP: rs199422301
rs199422301
TERT
3 0.882 0.120 5 1271156 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs199422305
rs199422305
TERT
1 1.000 5 1260509 missense variant G/A snv 0.700 0
dbSNP: rs34094720
rs34094720
TERT
3 0.882 0.040 5 1293652 missense variant G/A;T snv 3.3E-03; 6.0E-06 0.700 0
dbSNP: rs765566930
rs765566930
TERT
1 1.000 5 1260508 missense variant C/T snv 0.700 0
dbSNP: rs797046042
rs797046042
TERT
1 1.000 5 1279431 missense variant C/G;T snv 6.5E-06; 6.5E-06 0.700 0
dbSNP: rs878855300
rs878855300
TERT
1 1.000 5 1279323 stop gained G/A snv 0.700 0