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: rs121913290
rs121913290
PTEN ; KLLN
2 1.000 0.080 10 87864485 frameshift variant AA/-;AAA delins 0.700 0
dbSNP: rs1085308044
rs1085308044
PTEN ; KLLN
5 0.882 0.120 10 87864504 missense variant A/C snv 0.700 0
dbSNP: rs587776671
rs587776671
PTEN ; KLLN
7 0.790 0.160 10 87864506 frameshift variant AA/-;AAA delins 0.700 1.000 1 2000 2000
dbSNP: rs1554890348
rs1554890348
PTEN ; KLLN
1 1.000 0.080 10 87864506 stop gained A/T snv 0.700 0
dbSNP: rs1085308047
rs1085308047
PTEN ; KLLN
6 0.827 0.160 10 87864509 missense variant A/G snv 0.700 0
dbSNP: rs587782187
rs587782187
PTEN ; KLLN
2 1.000 0.080 10 87864517 stop gained T/A;C;G snv 8.0E-06 0.700 1.000 6 2003 2011
dbSNP: rs786204910
rs786204910
PTEN ; KLLN
2 1.000 0.080 10 87864518 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs587781912
rs587781912
PTEN ; KLLN
2 1.000 0.080 10 87864519 frameshift variant AA/- del 0.700 1.000 1 2006 2006
dbSNP: rs878853940
rs878853940
PTEN ; KLLN
1 1.000 0.080 10 87864522 frameshift variant A/- del 0.700 0
dbSNP: rs1554890400
rs1554890400
PTEN ; KLLN
1 1.000 0.080 10 87864536 frameshift variant T/- delins 0.700 0
dbSNP: rs797044910
rs797044910
PTEN ; KLLN
2 1.000 0.080 10 87864540 missense variant A/G snv 0.700 0
dbSNP: rs786204914
rs786204914
PTEN
1 1.000 0.080 10 87894024 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1554893756
rs1554893756
PTEN
1 1.000 0.080 10 87894032 stop gained T/A snv 0.700 1.000 2 2014 2015
dbSNP: rs1564814427
rs1564814427
PTEN
1 1.000 0.080 10 87894035 frameshift variant A/- delins 0.700 0
dbSNP: rs1554893765
rs1554893765
PTEN
1 1.000 0.080 10 87894039 inframe deletion ATT/- delins 0.700 1.000 2 2016 2018
dbSNP: rs876659443
rs876659443
PTEN
4 0.925 0.080 10 87894048 missense variant A/G snv 0.700 0
dbSNP: rs121909225
rs121909225
PTEN
8 0.790 0.160 10 87894049 missense variant T/C;G snv 0.700 1.000 4 1998 2016
dbSNP: rs1554893808
rs1554893808
PTEN
2 1.000 0.080 10 87894072 stop gained G/A;T snv 0.700 0
dbSNP: rs1564814541
rs1564814541
PTEN
1 1.000 0.080 10 87894074 frameshift variant -/G delins 0.700 0
dbSNP: rs1085308042
rs1085308042
PTEN
4 0.882 0.120 10 87894076 missense variant G/A snv 0.700 0
dbSNP: rs878853933
rs878853933
PTEN
1 1.000 0.080 10 87894076 frameshift variant -/C delins 0.700 0
dbSNP: rs762518389
rs762518389
PTEN
3 0.925 0.080 10 87894089 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 6 2003 2015
dbSNP: rs1554893835
rs1554893835
PTEN
8 0.827 0.240 10 87894110 splice donor variant G/C;T snv 0.700 0