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: rs1114167645
rs1114167645
PTEN
2 1.000 0.080 10 87933143 missense variant G/C snv 0.700 0
dbSNP: rs121909218
rs121909218
PTEN
25 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
dbSNP: rs121909227
rs121909227
PTEN
8 0.776 0.240 10 87957858 stop gained C/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: rs121913289
rs121913289
PTEN
4 1.000 0.080 10 87958013 frameshift variant A/- delins 0.700 0
dbSNP: rs121913290
rs121913290
PTEN ; KLLN
2 1.000 0.080 10 87864485 frameshift variant AA/-;AAA delins 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: rs1554825189
rs1554825189
PTEN
1 1.000 0.080 10 87957909 frameshift variant C/- delins 0.700 0
dbSNP: rs1554825206
rs1554825206
PTEN
1 1.000 0.080 10 87957938 frameshift variant -/CA ins 0.700 0
dbSNP: rs1554825209
rs1554825209
PTEN
1 1.000 0.080 10 87957940 frameshift variant -/TG delins 0.700 0
dbSNP: rs1554825530
rs1554825530
PTEN
7 0.790 0.160 10 87960957 frameshift variant -/CT;TTCT ins 0.700 0
dbSNP: rs1554825611
rs1554825611
PTEN
1 1.000 0.080 10 87961082 frameshift variant GA/- delins 0.700 0
dbSNP: rs1554825615
rs1554825615
PTEN
1 1.000 0.080 10 87961085 frameshift variant -/A delins 0.700 0
dbSNP: rs1554825631
rs1554825631
PTEN
1 1.000 0.080 10 87961097 frameshift variant -/T delins 0.700 0
dbSNP: rs1554825643
rs1554825643
PTEN
7 0.790 0.160 10 87961107 frameshift variant C/- delins 0.700 0
dbSNP: rs1554890348
rs1554890348
PTEN ; KLLN
1 1.000 0.080 10 87864506 stop gained A/T snv 0.700 0
dbSNP: rs1554890400
rs1554890400
PTEN ; KLLN
1 1.000 0.080 10 87864536 frameshift variant T/- delins 0.700 0
dbSNP: rs1554893808
rs1554893808
PTEN
2 1.000 0.080 10 87894072 stop gained G/A;T snv 0.700 0
dbSNP: rs1554893835
rs1554893835
PTEN
8 0.827 0.240 10 87894110 splice donor variant G/C;T snv 0.700 0
dbSNP: rs1554897267
rs1554897267
PTEN
1 1.000 0.080 10 87925532 frameshift variant A/- delins 0.700 0
dbSNP: rs1554898071
rs1554898071
PTEN
1 1.000 0.080 10 87933035 frameshift variant CATAACCCACCACAGC/- 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: rs1554898091
rs1554898091
PTEN
1 1.000 0.080 10 87933073 frameshift variant -/T delins 0.700 0