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: rs10494132
rs10494132
4 0.851 0.080 1 111289601 upstream gene variant T/C snv 0.26 0.010 1.000 1 2008 2008
dbSNP: rs1362834154
rs1362834154
2 0.925 0.080 16 27363681 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1425851607
rs1425851607
2 0.925 0.080 9 21440691 frameshift variant C/- delins 4.2E-06 0.010 1.000 1 2001 2001
dbSNP: rs1538660
rs1538660
3 0.882 0.080 9 108879545 missense variant G/A snv 0.19 0.22 0.010 1.000 1 2003 2003
dbSNP: rs1558641
rs1558641
3 0.925 0.080 2 102149405 intron variant G/A snv 0.13 0.010 1.000 1 2015 2015
dbSNP: rs1805014
rs1805014
4 0.851 0.080 16 27363708 missense variant T/C snv 7.4E-03 1.4E-02 0.010 1.000 1 2002 2002
dbSNP: rs1999071
rs1999071
4 0.851 0.080 14 22659998 regulatory region variant T/C snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs2233407
rs2233407
3 0.882 0.080 14 35405317 upstream gene variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs2282290
rs2282290
2 0.925 0.080 1 111320829 intron variant A/G snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs2715555
rs2715555
2 0.925 0.080 17 40388372 downstream gene variant G/A snv 9.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs3217304
rs3217304
2 0.925 0.080 2 98544046 intron variant ACACAC/-;AC;ACAC;ACACACAC;ACACACACAC;ACACACACACAC delins 0.25 0.010 1.000 1 2008 2008
dbSNP: rs3776944
rs3776944
2 0.925 0.080 5 179793009 upstream gene variant G/A snv 8.4E-02 0.010 1.000 1 2012 2012
dbSNP: rs3806448
rs3806448
2 0.925 0.080 1 111289583 upstream gene variant G/A snv 0.45 0.010 1.000 1 2008 2008
dbSNP: rs41347648
rs41347648
3 0.882 0.080 13 48707418 missense variant A/G snv 1.7E-02 1.7E-02 0.010 1.000 1 2007 2007
dbSNP: rs4559
rs4559
3 0.882 0.080 12 57095865 3 prime UTR variant C/T snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs71802646
rs71802646
3 0.882 0.080 12 57111290 5 prime UTR variant ACACACACACACACAC/-;AC;ACAC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC;ACACACACACACACACACACACAC;ACACACACACACACACACACACACAC delins 0.32 0.010 1.000 1 2014 2014
dbSNP: rs73985228
rs73985228
3 0.882 0.080 17 39922412 3 prime UTR variant G/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs900333744
rs900333744
2 0.925 0.080 9 21440695 missense variant A/G snv 0.010 1.000 1 2001 2001
dbSNP: rs324015
rs324015
5 0.827 0.120 12 57096317 3 prime UTR variant T/C snv 0.76 0.020 1.000 2 2014 2014
dbSNP: rs55661460
rs55661460
3 0.882 0.120 5 159320326 missense variant C/T snv 2.2E-03 7.3E-04 0.010 1.000 1 2001 2001
dbSNP: rs6967330
rs6967330
8 0.827 0.120 7 106018005 missense variant G/A snv 0.19 0.21 0.010 1.000 1 2015 2015
dbSNP: rs928413
rs928413
7 0.807 0.120 9 6213387 upstream gene variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs4065275
rs4065275
6 0.807 0.160 17 39924612 intron variant A/G;T snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs4794820
rs4794820
9 0.790 0.160 17 39933091 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs6871536
rs6871536
5 0.827 0.160 5 132634182 intron variant T/C snv 0.24 0.010 1.000 1 2015 2015