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: rs1045241
rs1045241
6 1.000 0.120 5 119393591 3 prime UTR variant C/T snv 0.30 0.020 1.000 2 2012 2013
dbSNP: rs1053667
rs1053667
4 0.925 0.120 14 45073835 3 prime UTR variant T/C snv 0.11 0.020 1.000 2 2014 2014
dbSNP: rs12211228
rs12211228
2 1.000 0.120 6 408833 3 prime UTR variant G/C snv 0.11 0.020 1.000 2 2009 2009
dbSNP: rs10008492
rs10008492
2 1.000 0.120 4 38764099 intergenic variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1003421753
rs1003421753
1 1.000 0.120 3 159989088 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs1039312028
rs1039312028
BAX
1 1.000 0.120 19 48955724 missense variant G/A snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs11337
rs11337
4 0.925 0.120 8 41510767 3 prime UTR variant T/G snv 0.93 0.010 1.000 1 2014 2014
dbSNP: rs1163350491
rs1163350491
OCM
1 1.000 0.120 7 5880922 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1185926926
rs1185926926
1 1.000 0.120 21 45531748 missense variant A/G snv 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs1250480918
rs1250480918
1 1.000 0.120 21 45537803 synonymous variant G/A snv 4.6E-06 0.010 1.000 1 2015 2015
dbSNP: rs13178127
rs13178127
1 1.000 0.120 5 83293613 intron variant A/G snv 3.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs1320767909
rs1320767909
1 1.000 0.120 21 45531982 missense variant A/G snv 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs1335035506
rs1335035506
1 1.000 0.120 17 18340207 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs1353759920
rs1353759920
4 0.851 0.120 1 3707593 missense variant C/A snv 2.1E-05 0.010 1.000 1 2004 2004
dbSNP: rs1447708158
rs1447708158
1 1.000 0.120 3 12604160 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs146713238
rs146713238
1 1.000 0.120 5 132679861 missense variant G/A snv 3.2E-05 8.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs148701087
rs148701087
1 1.000 0.120 17 18340762 missense variant G/A snv 6.4E-04 8.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs1494555
rs1494555
8 0.790 0.120 5 35871088 missense variant G/A snv 0.64 0.72 0.010 1.000 1 2011 2011
dbSNP: rs150865017
rs150865017
1 1.000 0.120 3 126154627 missense variant G/A;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs16994592
rs16994592
1 1.000 0.120 19 6586487 intron variant T/C snv 9.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs17723799
rs17723799
1 1.000 0.120 5 149427514 non coding transcript exon variant C/T snv 9.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1785882
rs1785882
1 1.000 0.120 11 105052348 intron variant A/T snv 0.45 0.010 1.000 1 2009 2009
dbSNP: rs1790192
rs1790192
1 1.000 0.120 11 118886482 non coding transcript exon variant G/A;C snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs1800893
rs1800893
1 1.000 0.120 1 206773822 intron variant C/T snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs1921310
rs1921310
1 1.000 0.120 2 161192690 intron variant A/G snv 0.15 0.010 1.000 1 2009 2009