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: rs80338908
rs80338908
TEK
6 0.882 0.120 9 27206762 missense variant C/T snv 4.0E-06 7.0E-06 0.050 1.000 5 1996 2018
dbSNP: rs1210484348
rs1210484348
ABL1
3 0.925 0.080 9 130884973 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016