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: rs794728530
rs794728530
1 1.000 0.120 11 2768851 stop gained G/T snv 0.700 0
dbSNP: rs794728846
rs794728846
2 0.925 0.120 3 38620972 splice acceptor variant C/T snv 0.700 0
dbSNP: rs199472936
rs199472936
5 0.882 0.120 7 150951592 missense variant C/A;T snv 0.010 1.000 1 1999 1999
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: rs199473317
rs199473317
3 0.882 0.120 3 38551003 missense variant T/C snv 0.010 1.000 1 2000 2000
dbSNP: rs120074186
rs120074186
4 0.851 0.120 11 2572979 stop gained G/A;C;T snv 1.6E-05; 4.0E-06; 4.0E-06 0.700 1.000 1 2003 2003
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: rs199473631
rs199473631
3 0.925 0.120 3 38551085 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs1805123
rs1805123
18 0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 0.010 1.000 1 2005 2005
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: rs199473507
rs199473507
2 0.925 0.120 7 150952723 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs767910122
rs767910122
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs794728448
rs794728448
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 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: 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: 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: rs121434500
rs121434500
5 0.851 0.120 20 33410203 missense variant G/A snv 2.0E-05 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs199472960
rs199472960
1 1.000 0.120 7 150951496 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs199473103
rs199473103
3 0.925 0.120 3 38606102 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs199473522
rs199473522
3 0.882 0.120 7 150951583 missense variant C/T snv 0.010 1.000 1 2008 2008
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: rs397508091
rs397508091
2 0.925 0.120 11 2662080 stop gained C/T snv 0.700 1.000 2 2009 2009
dbSNP: rs397508120
rs397508120
3 0.882 0.120 11 2570734 frameshift variant G/- delins 0.700 1.000 2 2002 2009
dbSNP: rs794728565
rs794728565
3 0.882 0.120 11 2527943 frameshift variant G/- delins 0.700 1.000 1 2009 2009
dbSNP: rs199472944
rs199472944
3 0.882 0.120 7 150951552 missense variant G/A snv 0.010 1.000 1 2011 2011