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: rs16847548
rs16847548
8 0.807 0.120 1 162065484 upstream gene variant T/C snv 0.22 0.010 < 0.001 1 2013 2013
dbSNP: rs4657139
rs4657139
3 0.925 0.120 1 162060117 intergenic variant A/T snv 0.48 0.010 < 0.001 1 2013 2013
dbSNP: rs267607277
rs267607277
6 0.807 0.120 14 90404386 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs398124647
rs398124647
6 0.807 0.120 2 47161851 missense variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs398124650
rs398124650
3 0.882 0.120 2 47161744 missense variant C/G;T snv 0.010 1.000 1 2014 2014
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: rs1805127
rs1805127
17 0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 0.010 1.000 1 2017 2017
dbSNP: rs1805128
rs1805128
10 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.010 < 0.001 1 2013 2013
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: 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: 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: 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: 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: 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: rs199472936
rs199472936
5 0.882 0.120 7 150951592 missense variant C/A;T snv 0.010 1.000 1 1999 1999
dbSNP: rs199472944
rs199472944
3 0.882 0.120 7 150951552 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs199472960
rs199472960
1 1.000 0.120 7 150951496 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs199473507
rs199473507
2 0.925 0.120 7 150952723 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs199473522
rs199473522
3 0.882 0.120 7 150951583 missense variant C/T snv 0.010 1.000 1 2008 2008
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: 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: 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: rs199473394
rs199473394
2 0.925 0.120 11 2570685 missense variant G/A snv 7.0E-06 0.700 1.000 9 2000 2018