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: rs515726223
rs515726223
1 1.000 0.040 8 38424655 missense variant T/G snv 0.700 1.000 1 2013 2013
dbSNP: rs104893842
rs104893842
2 0.925 0.040 4 67753920 missense variant C/T snv 1.4E-04 2.1E-04 0.020 1.000 2 2001 2016
dbSNP: rs104893836
rs104893836
7 0.790 0.160 4 67754019 missense variant T/C snv 2.8E-03 2.3E-03 0.010 1.000 1 2001 2001
dbSNP: rs104893843
rs104893843
2 0.925 0.040 4 67754306 missense variant A/T snv 1.3E-04 6.3E-05 0.010 1.000 1 2001 2001
dbSNP: rs104894703
rs104894703
3 0.882 0.040 19 918604 missense variant T/C snv 2.5E-05 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs1281091213
rs1281091213
1 1.000 0.040 8 26864578 missense variant G/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs748209924
rs748209924
1 1.000 0.040 6 32974462 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs757813231
rs757813231
1 1.000 0.040 19 19626983 missense variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2007 2007