Gene: PIK3CA ×
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 0.100 1.000 16 2006 2019
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.050 1.000 5 2011 2019
dbSNP: rs121913273
rs121913273
PIK3CA
44 0.605 0.440 3 179218294 missense variant G/A;C snv 0.030 1.000 3 2014 2019
dbSNP: rs17849071
rs17849071
PIK3CA
8 0.776 0.160 3 179218439 intron variant T/G snv 7.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs17849079
rs17849079
PIK3CA
3 0.882 0.120 3 179234232 synonymous variant C/T snv 2.1E-02 1.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs2699887
rs2699887
PIK3CA ; LOC101928739
11 0.763 0.280 3 179148620 intron variant C/T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs587777790
rs587777790
PIK3CA
14 0.732 0.280 3 179199690 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs6443624
rs6443624
PIK3CA
8 0.776 0.200 3 179179886 intron variant C/A snv 0.30 0.010 1.000 1 2018 2018