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: rs1114167640
rs1114167640
PTEN
8 0.790 0.160 10 87961067 stop gained TGACAAAGCAAATA/CGCTT delins 0.700 0
dbSNP: rs121909218
rs121909218
PTEN
25 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
dbSNP: rs121909219
rs121909219
PTEN
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs121909220
rs121909220
PTEN
2 0.925 0.080 10 87933228 stop gained G/T snv 0.700 0
dbSNP: rs121909221
rs121909221
PTEN
7 0.790 0.160 10 87952135 missense variant T/A snv 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: rs121909225
rs121909225
PTEN
8 0.790 0.160 10 87894049 missense variant T/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: rs121909227
rs121909227
PTEN
8 0.776 0.240 10 87957858 stop gained C/T snv 0.700 0
dbSNP: rs121909228
rs121909228
PTEN
7 0.790 0.160 10 87957984 stop gained G/T snv 0.700 0
dbSNP: rs121909229
rs121909229
PTEN
23 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 0
dbSNP: rs121909230
rs121909230
PTEN
2 0.925 0.080 10 87933094 missense variant T/C 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: 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: rs1224040268
rs1224040268
PTEN
12 0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 0.700 0
dbSNP: rs1554825165
rs1554825165
PTEN
7 0.790 0.160 10 87957872 stop gained C/A snv 0.700 0
dbSNP: rs1554825530
rs1554825530
PTEN
7 0.790 0.160 10 87960957 frameshift variant -/CT;TTCT ins 0.700 0
dbSNP: rs1554825643
rs1554825643
PTEN
7 0.790 0.160 10 87961107 frameshift variant C/- delins 0.700 0
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: rs1554898244
rs1554898244
PTEN
7 0.790 0.160 10 87933253 splice donor variant T/C;G 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
dbSNP: rs397515374
rs397515374
PTEN
7 0.790 0.160 10 87952159 stop gained TA/AT mnv 0.700 0
dbSNP: rs398123317
rs398123317
PTEN
8 0.790 0.160 10 87925550 missense variant T/A;C;G snv 0.700 0