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: rs1003629254
rs1003629254
EIF2AK3
2 0.925 0.080 2 88595599 missense variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs3802829
rs3802829
TRPC6
2 0.925 0.080 11 101583461 missense variant G/A snv 8.2E-02 7.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs530318579
rs530318579
NPHS2
6 0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs74315344
rs74315344
NPHS2
4 0.851 0.080 1 179575806 missense variant G/A snv 2.8E-03 4.2E-03 0.010 1.000 1 2012 2012
dbSNP: rs761613959
rs761613959
MUC1
4 0.851 0.080 1 155187356 stop gained G/A snv 3.2E-05 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs779430565
rs779430565
TRPC6
3 0.882 0.080 11 101504316 missense variant T/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2011 2011