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: rs1057519736
rs1057519736
13 0.752 0.160 15 90088605 missense variant C/G snv 0.020 1.000 2 2011 2019
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2011 2018
dbSNP: rs1027263198
rs1027263198
1 1.000 0.040 3 46898787 missense variant G/A snv 8.7E-06 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs1131691907
rs1131691907
1 1.000 0.040 20 58840473 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs118101777
rs118101777
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1.000 1 2011 2011
dbSNP: rs1203182324
rs1203182324
1 1.000 0.040 20 58854258 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121434601
rs121434601
3 0.925 0.080 3 46898097 missense variant C/T snv 1.7E-03 1.7E-03 0.010 1.000 1 2008 2008
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1328937750
rs1328937750
1 1.000 0.040 20 58853674 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs1369025856
rs1369025856
2 0.925 0.080 20 58910061 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs137854532
rs137854532
4 0.882 0.160 20 58905443 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs200197785
rs200197785
1 1.000 0.040 3 46897905 missense variant G/A snv 2.0E-05 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs375486178
rs375486178
1 1.000 0.040 20 58853828 missense variant G/A snv 4.6E-06 1.4E-05 0.010 1.000 1 2008 2008