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: rs786201032
rs786201032
4 0.925 0.120 11 299372 missense variant G/A snv 0.820 0.750 4 2012 2018
dbSNP: rs587776916
rs587776916
2 1.000 0.120 11 299504 5 prime UTR variant G/A;C;T snv 1.4E-05; 1.4E-05 0.700 0
dbSNP: rs755253307
rs755253307
2 0.925 0.120 12 48979482 missense variant T/C snv 1.2E-05 1.4E-05 0.010 < 0.001 1 2018 2018