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: rs74315445
rs74315445
6 0.807 0.120 21 34449409 missense variant C/T snv 6.8E-05 5.3E-05 0.700 1.000 15 1997 2015
dbSNP: rs199473411
rs199473411
3 0.882 0.120 11 2585275 missense variant C/A;T snv 0.700 1.000 9 1997 2014
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: rs137854601
rs137854601
10 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.700 1.000 7 1999 2014
dbSNP: rs397508118
rs397508118
4 0.851 0.120 11 2570720 frameshift variant GCGCT/- delins 1.4E-05 0.700 1.000 6 1999 2015
dbSNP: rs199473428
rs199473428
4 0.851 0.120 7 150951643 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 5 1999 2015
dbSNP: rs199472936
rs199472936
5 0.882 0.120 7 150951592 missense variant C/A;T snv 0.010 1.000 1 1999 1999
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: rs199472815
rs199472815
4 0.851 0.120 11 2778024 missense variant G/A;C snv 2.0E-05 0.700 1.000 11 2000 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: 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: 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: rs397508120
rs397508120
3 0.882 0.120 11 2570734 frameshift variant G/- delins 0.700 1.000 2 2002 2009
dbSNP: rs199472910
rs199472910
5 0.827 0.120 7 150952508 missense variant G/A snv 1.2E-05 0.700 1.000 5 2003 2017
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: rs12720458
rs12720458
20 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 1.000 8 2005 2016
dbSNP: rs12720459
rs12720459
7 0.807 0.160 11 2583535 missense variant C/A;G;T snv 0.040 1.000 4 2005 2015
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: 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