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: rs1480085793
rs1480085793
1 1.000 0.120 3 38620919 stop gained G/A snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs199472960
rs199472960
1 1.000 0.120 7 150951496 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs199473359
rs199473359
1 1.000 0.120 21 34449393 missense variant T/A;C snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs199473447
rs199473447
1 1.000 0.120 11 2445412 missense variant A/T snv 0.010 1.000 1 2006 2006
dbSNP: rs770088052
rs770088052
1 1.000 0.120 3 38581182 missense variant C/A;T snv 4.2E-06; 8.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs780405533
rs780405533
1 1.000 0.120 3 38560221 stop gained C/A;T snv 3.6E-05 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs794728530
rs794728530
1 1.000 0.120 11 2768851 stop gained G/T snv 0.700 0
dbSNP: rs199473394
rs199473394
2 0.925 0.120 11 2570685 missense variant G/A snv 7.0E-06 0.700 1.000 9 2000 2018
dbSNP: rs794728568
rs794728568
2 0.925 0.120 11 2570707 missense variant G/A;T snv 0.700 1.000 3 2016 2016
dbSNP: rs397508091
rs397508091
2 0.925 0.120 11 2662080 stop gained C/T snv 0.700 1.000 2 2009 2009
dbSNP: rs769505732
rs769505732
2 0.925 0.120 7 150952696 missense variant G/A snv 4.0E-06 0.020 1.000 2 2005 2013
dbSNP: rs121434386
rs121434386
2 0.925 0.120 11 118141265 missense variant G/A snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs12720449
rs12720449
2 0.925 0.120 11 2588804 missense variant C/A;G;T snv 7.2E-05; 7.5E-03; 2.0E-05 0.010 1.000 1 2004 2004
dbSNP: rs199473051
rs199473051
2 0.925 0.120 3 38633058 missense variant C/T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs199473507
rs199473507
2 0.925 0.120 7 150952723 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs554903493
rs554903493
2 1.000 0.120 5 102419940 missense variant G/A snv 8.2E-06 0.010 1.000 1 2008 2008
dbSNP: rs794728879
rs794728879
2 0.925 0.120 3 38560146 splice donor variant C/A;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs794728846
rs794728846
2 0.925 0.120 3 38620972 splice acceptor variant C/T snv 0.700 0
dbSNP: rs199473538
rs199473538
3 0.882 0.120 7 150948981 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 15 2000 2016
dbSNP: rs199473456
rs199473456
3 0.882 0.120 11 2571394 missense variant C/T snv 1.2E-05 0.700 1.000 11 1999 2014
dbSNP: rs199472990
rs199472990
3 0.882 0.120 7 150950312 missense variant G/A snv 7.0E-06 0.700 1.000 9 2000 2018
dbSNP: rs199473411
rs199473411
3 0.882 0.120 11 2585275 missense variant C/A;T snv 0.700 1.000 9 1997 2014
dbSNP: rs397508120
rs397508120
3 0.882 0.120 11 2570734 frameshift variant G/- delins 0.700 1.000 2 2002 2009
dbSNP: rs199472719
rs199472719
3 0.882 0.120 11 2572104 missense variant C/T snv 4.1E-06 0.010 1.000 1 2000 2000
dbSNP: rs199472944
rs199472944
3 0.882 0.120 7 150951552 missense variant G/A snv 0.010 1.000 1 2011 2011