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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs1280914556
rs1280914556
2 1 32014269 missense variant A/G snv 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs267607102
rs267607102
5 0.851 0.120 1 11022196 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs74315322
rs74315322
3 1.000 0.040 1 154275165 stop gained C/T snv 3.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs80356717
rs80356717
5 0.851 0.120 1 11018836 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1364050643
rs1364050643
5 0.851 0.240 2 86232711 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1805032
rs1805032
3 1.000 0.040 2 151839238 stop gained G/A snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs114925667
rs114925667
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs13963
rs13963
1 3 45035631 missense variant G/A snv 0.49 0.43 0.010 < 0.001 1 2019 2019
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.020 1.000 2 2019 2019
dbSNP: rs374651285
rs374651285
ALB
1 4 73406645 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs121913223
rs121913223
2 1.000 0.040 5 80633904 missense variant T/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121918413
rs121918413
3 1.000 0.120 5 151851470 missense variant G/T snv 0.010 1.000 1 2002 2002
dbSNP: rs1467252662
rs1467252662
2 5 151851530 missense variant G/T snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1471980111
rs1471980111
1 6 38737948 missense variant G/A snv 4.1E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1457713736
rs1457713736
1 8 11850867 stop gained C/T snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs141138948
rs141138948
9 0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 0.010 1.000 1 2020 2020
dbSNP: rs1801252
rs1801252
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.010 1.000 1 2017 2017
dbSNP: rs28939711
rs28939711
5 0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs397514662
rs397514662
4 0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs12252
rs12252
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2016 2016
dbSNP: rs121434444
rs121434444
4 0.882 0.160 12 57569648 missense variant C/T snv 2.8E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs80358261
rs80358261
3 0.925 0.160 14 74486404 missense variant C/T snv 1.7E-05 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs1258159645
rs1258159645
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1475170339
rs1475170339
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2013 2013