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: rs113993970
rs113993970
5 0.925 0.240 10 122506817 stop gained C/T snv 8.0E-06 3.5E-05 0.700 0
dbSNP: rs139108915
rs139108915
3 0.925 0.120 9 36840599 missense variant G/A snv 1.0E-05 9.8E-05 0.010 1.000 1 2000 2000
dbSNP: rs17125721
rs17125721
14 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.010 1.000 1 2005 2005
dbSNP: rs63749835
rs63749835
5 0.851 0.080 14 73192799 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2002 2002
dbSNP: rs75932628
rs75932628
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2014 2014