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: rs1468358104
rs1468358104
3 1 212858454 start lost T/C snv 3.7E-05 0.010 1.000 1 2019 2019
dbSNP: rs781698345
rs781698345
1 1 156873882 missense variant T/C snv 4.8E-06 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs119482084
rs119482084
2 1.000 0.080 9 92038342 missense variant C/G;T snv 4.3E-04; 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs267607087
rs267607087
5 0.851 0.120 9 92047261 missense variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs587777108
rs587777108
5 0.925 0.080 11 63646550 missense variant T/C snv 0.020 1.000 2 2014 2019
dbSNP: rs754805007
rs754805007
1 17 49512999 missense variant C/T snv 1.5E-05 0.010 1.000 1 2009 2009