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: rs104894373
rs104894373
4 0.851 0.080 12 55721908 missense variant T/G snv 8.1E-06 0.010 < 0.001 1 2000 2000
dbSNP: rs137853290
rs137853290
3 0.882 0.040 15 89215133 missense variant C/G;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs758411232
rs758411232
2 0.925 0.040 12 55721902 missense variant A/G;T snv 4.0E-06; 8.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs759359491
rs759359491
3 0.882 0.040 12 55721287 missense variant G/A;T snv 1.6E-05 0.010 1.000 1 2001 2001