Source: CLINVAR ×
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: rs11540652
rs11540652
TP53
42 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 3 2004 2016
dbSNP: rs121913343
rs121913343
TP53
29 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.700 1.000 3 2004 2016
dbSNP: rs1554040964
rs1554040964
TERT
1 1.000 0.080 5 1279417 missense variant C/G snv 0.700 1.000 2 2013 2017
dbSNP: rs28931589
rs28931589
CTNNB1
13 0.695 0.240 3 41224613 missense variant G/A;C;T snv 0.710 1.000 2 2014 2016
dbSNP: rs104886003
rs104886003
PIK3CA
34 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.720 1.000 1 2008 2019
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
23 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
30 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
52 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
36 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
17 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519881
rs1057519881
CDKN2A
8 0.776 0.240 9 21971111 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
CREBBP
11 0.752 0.240 16 3738616 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519886
rs1057519886
CTNNB1
11 0.752 0.240 3 41224609 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519897
rs1057519897
FGFR1
6 0.807 0.240 8 38414788 missense variant C/G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519906
rs1057519906
IDH2
5 0.882 0.120 15 90088607 missense variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519922
rs1057519922
NFE2L2
7 0.790 0.200 2 177234082 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519923
rs1057519923
NFE2L2
6 0.807 0.200 2 177234081 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519924
rs1057519924
NFE2L2
6 0.807 0.200 2 177234080 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519925
rs1057519925
PIK3CA
23 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519926
rs1057519926
PIK3CA
10 0.776 0.200 3 179210293 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927
PIK3CA
18 0.716 0.240 3 179218295 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519932
rs1057519932
PIK3CA
22 0.683 0.320 3 179234298 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519956
rs1057519956
CNOT9
5 0.827 0.200 2 218583025 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519957
rs1057519957
CNOT9
5 0.827 0.200 2 218583026 missense variant C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519958
rs1057519958
RXRA
3 0.851 0.200 9 134436505 missense variant C/A;T snv 0.700 1.000 1 2016 2016