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: rs1057519985
rs1057519985
TP53
16 0.724 0.360 17 7673763 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519992
rs1057519992
TP53
14 0.742 0.400 17 7674890 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519995
rs1057519995
TP53
9 0.807 0.240 17 7674200 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519996
rs1057519996
TP53
19 0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520002
rs1057520002
TP53
20 0.695 0.360 17 7674242 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
20 0.695 0.320 17 7675996 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520004
rs1057520004
TP53
12 0.752 0.240 17 7674884 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520005
rs1057520005
TP53
14 0.742 0.360 17 7673800 missense variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520006
rs1057520006
TP53
14 0.752 0.240 17 7673799 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520007
rs1057520007
TP53
21 0.701 0.440 17 7674917 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121434498
rs121434498
MAP2K2
6 0.807 0.280 19 4117553 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121909235
rs121909235
PTEN
8 0.851 0.240 10 87957919 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs121912580
rs121912580
SMAD4
7 0.807 0.280 18 51067036 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
37 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913274
rs121913274
PIK3CA
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913281
rs121913281
PIK3CA
37 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913385
rs121913385
CDKN2A
9 0.763 0.240 9 21971112 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs121913400
rs121913400
CTNNB1
26 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913412
rs121913412
CTNNB1
19 0.724 0.280 3 41224633 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913413
rs121913413
CTNNB1
11 0.763 0.240 3 41224634 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913495
rs121913495
GNAS
28 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1361241029
rs1361241029
PBK
1 1.000 0.120 8 27828154 start lost T/C snv 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs1370376642
rs1370376642
FOXJ1 ; RNF157-AS1
1 1.000 0.120 17 76140095 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs1383461329
rs1383461329
KMT5A
2 1.000 0.120 12 123389469 missense variant C/T snv 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1435047610
rs1435047610
CDK16
1 1.000 0.120 X 47223642 missense variant G/A snv 9.5E-06 0.010 1.000 1 2019 2019