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: rs1060503011
rs1060503011
TERT
1 1.000 0.120 5 1279410 missense variant G/A;C snv 7.0E-06 0.700 0
dbSNP: rs111576740
rs111576740
TERT
2 0.925 0.120 5 1266537 splice acceptor variant T/C;G snv 0.700 0
dbSNP: rs121918661
rs121918661
TERT
3 0.882 0.120 5 1294282 missense variant C/T snv 3.2E-04 1.8E-04 0.700 0
dbSNP: rs121918662
rs121918662
TERT
3 0.882 0.120 5 1279341 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs121918663
rs121918663
TERT
2 0.925 0.120 5 1272252 missense variant T/C snv 0.700 0
dbSNP: rs121918665
rs121918665
TERT
2 0.925 0.120 5 1264541 missense variant C/G snv 4.0E-06 0.700 0
dbSNP: rs121918666
rs121918666
TERT
3 0.882 0.160 5 1266524 missense variant C/T snv 8.2E-06 7.0E-06 0.700 0
dbSNP: rs1388515349
rs1388515349
TERT
1 1.000 0.120 5 1278700 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs1554041299
rs1554041299
TERT
1 1.000 0.120 5 1282488 coding sequence variant C/R snv 0.700 0
dbSNP: rs199422289
rs199422289
TERT
1 1.000 0.120 5 1294893 missense variant G/A snv 0.700 0
dbSNP: rs199422290
rs199422290
TERT
1 1.000 0.120 5 1294878 frameshift variant G/- del 0.700 0
dbSNP: rs199422291
rs199422291
TERT
1 1.000 0.120 5 1294456 missense variant C/T snv 0.700 0
dbSNP: rs199422293
rs199422293
TERT
1 1.000 0.120 5 1293430 missense variant G/A snv 0.700 0
dbSNP: rs199422294
rs199422294
TERT
5 0.827 0.160 5 1280216 missense variant C/T snv 0.700 0
dbSNP: rs199422295
rs199422295
TERT
3 0.882 0.120 5 1279376 missense variant C/T snv 0.700 0
dbSNP: rs199422296
rs199422296
TERT
1 1.000 0.120 5 1279392 missense variant C/A snv 0.700 0
dbSNP: rs199422297
rs199422297
TERT
2 0.925 0.120 5 1279311 missense variant G/A snv 5.1E-06 4.2E-05 0.700 0
dbSNP: rs199422298
rs199422298
TERT
1 1.000 0.120 5 1278780 missense variant G/A snv 0.700 0
dbSNP: rs199422299
rs199422299
TERT
2 0.925 0.120 5 1278765 missense variant G/C snv 0.700 0
dbSNP: rs199422300
rs199422300
TERT
2 0.925 0.120 5 1278687 frameshift variant A/- del 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: rs199422302
rs199422302
TERT
1 1.000 0.120 5 1268565 missense variant T/C snv 0.700 0
dbSNP: rs199422303
rs199422303
TERT
1 1.000 0.120 5 1266490 missense variant G/C snv 0.700 0
dbSNP: rs199422307
rs199422307
TERT
1 1.000 0.120 5 1255401 missense variant A/G snv 0.700 0
dbSNP: rs199422308
rs199422308
TERT
1 1.000 0.120 5 1253546 3 prime UTR variant TCAGCCGGACACTCAGCCTTCAGCCGGACATGCAGGCCTCGGCCAAACACTCACTCAGGCCTCAGACTCCCAGCGGTGCGGGCCTGGGTGTGGGCCGCCCCTCCCTCCCTGGGACGTAGAGCCCGGCGTGACAGGGCTGCTGGTGTCTGCTCTCGGCCTGGCTGTGGGCGGGTGGCC/- delins 0.700 0