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: rs11591147
rs11591147
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs1209143268
rs1209143268
1 1.000 0.040 2 43877840 missense variant T/G snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs17222842
rs17222842
3 0.882 0.120 13 30765980 downstream gene variant G/A snv 6.1E-02 0.010 1.000 1 2009 2009
dbSNP: rs9551963
rs9551963
6 0.851 0.160 13 30758410 intron variant A/C;T snv 0.010 1.000 1 2009 2009