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: rs121913283
rs121913283
PIK3CA
16 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913284
rs121913284
PIK3CA
11 0.776 0.160 3 179203765 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519937
rs1057519937
PIK3CA
11 0.776 0.200 3 179234285 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs121913272
rs121913272
PIK3CA
13 0.752 0.400 3 179210192 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1555913337
rs1555913337
BCOR
1 1.000 0.040 X 40054273 frameshift variant TAGAAGTCCCAAGTGC/- del 0.700 0