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: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 14 1997 2018
dbSNP: rs121909231
rs121909231
PTEN
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 1.000 9 1997 2015
dbSNP: rs121909218
rs121909218
PTEN
25 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
dbSNP: rs121909229
rs121909229
PTEN
23 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 18 1998 2015
dbSNP: rs121909219
rs121909219
PTEN
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 1.000 8 1997 2014
dbSNP: rs121913293
rs121913293
PTEN
18 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 1.000 7 2000 2017
dbSNP: rs863224909
rs863224909
PTEN
14 0.732 0.360 10 87960952 stop gained C/A;G snv 0.700 0
dbSNP: rs587776667
rs587776667
PTEN
14 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 1.000 6 1997 2017
dbSNP: rs121909222
rs121909222
PTEN
13 0.742 0.240 10 87933127 missense variant A/G snv 0.700 1.000 1 1999 1999
dbSNP: rs1224040268
rs1224040268
PTEN
12 0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 0.700 0
dbSNP: rs370795352
rs370795352
PTEN
13 0.742 0.360 10 87933163 missense variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs1064793345
rs1064793345
PTEN
11 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012
dbSNP: rs1085308041
rs1085308041
PTEN
12 0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 0.700 1.000 6 2000 2017
dbSNP: rs1085308043
rs1085308043
PTEN
12 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 1.000 3 1998 2017
dbSNP: rs121913294
rs121913294
PTEN
14 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 10 1998 2017
dbSNP: rs587782350
rs587782350
PTEN
9 0.776 0.160 10 87957955 missense variant C/T snv 0.700 1.000 10 1999 2017
dbSNP: rs876661024
rs876661024
PTEN
11 0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv 0.700 1.000 9 1998 2017
dbSNP: rs121909232
rs121909232
PTEN
9 0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06 0.700 1.000 5 1975 2014
dbSNP: rs786204858
rs786204858
PTEN
11 0.776 0.280 10 87933079 missense variant A/G;T snv 0.700 1.000 5 2013 2018
dbSNP: rs398123318
rs398123318
PTEN
9 0.776 0.240 10 87925558 splice region variant AGTA/- delins 0.700 1.000 3 2000 2017
dbSNP: rs786201041
rs786201041
PTEN
9 0.776 0.160 10 87961119 splice donor variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs121909227
rs121909227
PTEN
8 0.776 0.240 10 87957858 stop gained C/T snv 0.700 0
dbSNP: rs398123317
rs398123317
PTEN
8 0.790 0.160 10 87925550 missense variant T/A;C;G snv 0.700 1.000 13 1998 2015
dbSNP: rs121909241
rs121909241
PTEN
8 0.790 0.160 10 87933154 missense variant G/A;T snv 0.700 1.000 9 2006 2017