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: rs137852912
rs137852912
10 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.030 1.000 3 2010 2018
dbSNP: rs11591147
rs11591147
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.020 1.000 2 2009 2019
dbSNP: rs28362286
rs28362286
6 0.851 0.080 1 55063542 stop gained C/A;T snv 5.6E-04 0.010 1.000 1 2009 2009
dbSNP: rs67608943
rs67608943
8 0.851 0.080 1 55046549 stop gained C/G;T snv 1.9E-04 0.010 1.000 1 2009 2009