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: rs886037891
rs886037891
EGFR
7 0.790 0.160 7 55155917 missense variant G/T snv 4.0E-06 0.700 0
dbSNP: rs587776671
rs587776671
PTEN ; KLLN
7 0.790 0.160 10 87864506 frameshift variant AA/-;AAA delins 0.700 0
dbSNP: rs121909225
rs121909225
PTEN
8 0.790 0.160 10 87894049 missense variant T/C;G snv 0.700 0
dbSNP: rs1085308043
rs1085308043
PTEN
12 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs786203847
rs786203847
PTEN
8 0.790 0.160 10 87925512 splice acceptor variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs398123317
rs398123317
PTEN
8 0.790 0.160 10 87925550 missense variant T/A;C;G snv 0.700 0
dbSNP: rs121909226
rs121909226
PTEN
7 0.790 0.160 10 87925557 missense variant T/C snv 0.700 0
dbSNP: rs398123318
rs398123318
PTEN
9 0.776 0.240 10 87925558 splice region variant AGTA/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1114167650
rs1114167650
PTEN
8 0.790 0.160 10 87925562 splice region variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554897854
rs1554897854
PTEN
7 0.790 0.160 10 87931042 splice acceptor variant AGTT/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1114167621
rs1114167621
PTEN
8 0.790 0.160 10 87931045 splice acceptor variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs587776667
rs587776667
PTEN
14 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 1.000 1 2017 2017
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: rs1554897889
rs1554897889
PTEN
7 0.790 0.160 10 87931094 splice region variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554898083
rs1554898083
PTEN
7 0.790 0.160 10 87933057 frameshift variant -/T delins 0.700 0
dbSNP: rs1554898085
rs1554898085
PTEN
7 0.790 0.160 10 87933061 frameshift variant -/AAACC delins 0.700 0
dbSNP: rs587776666
rs587776666
PTEN
7 0.790 0.160 10 87933106 frameshift variant ACAAT/- del 0.700 0
dbSNP: rs121909222
rs121909222
PTEN
13 0.742 0.240 10 87933127 missense variant A/G snv 0.700 0
dbSNP: rs121909223
rs121909223
PTEN
8 0.790 0.160 10 87933129 missense variant T/C;G snv 0.700 0
dbSNP: rs121909218
rs121909218
PTEN
25 0.672 0.360 10 87933145 missense variant G/A snv 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 4 1997 2013
dbSNP: rs121909229
rs121909229
PTEN
23 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 0
dbSNP: rs121909241
rs121909241
PTEN
8 0.790 0.160 10 87933154 missense variant G/A;T snv 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