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: rs397518423
rs397518423
PIK3CD
10 0.790 0.240 1 9726972 missense variant G/A snv 0.820 1.000 8 2006 2018
dbSNP: rs28730670
rs28730670
PIK3CD
1 1.000 0.080 1 9717608 missense variant C/A;G;T snv 1.4E-03 0.700 0
dbSNP: rs587777389
rs587777389
PIK3CD
1 1.000 0.080 1 9720793 missense variant G/A snv 0.700 0
dbSNP: rs587777390
rs587777390
PIK3CD
1 1.000 0.080 1 9719924 missense variant T/C snv 0.700 0
dbSNP: rs1017086766
rs1017086766
PIK3R1
1 1.000 0.080 5 68226779 missense variant G/A;C snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1267812755
rs1267812755
PIK3R1
1 1.000 0.080 5 68290729 start lost A/G snv 0.010 1.000 1 2019 2019