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: rs3775948
rs3775948
4 0.882 0.160 4 9993558 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs55951658
rs55951658
7 0.827 0.200 7 99770202 missense variant T/A;C snv 4.1E-04 9.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs792837
rs792837
1 1.000 0.080 3 99758338 intron variant C/T snv 0.51 0.010 1.000 1 2013 2013
dbSNP: rs754203
rs754203
6 0.807 0.200 14 99691630 non coding transcript exon variant A/G snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs6584273
rs6584273
1 1.000 0.080 10 99379424 intron variant G/A snv 9.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs113816795
rs113816795
2 1.000 0.080 5 99159794 intergenic variant T/C snv 8.1E-03 0.700 1.000 1 2018 2018
dbSNP: rs531564
rs531564
27 0.672 0.480 8 9903189 non coding transcript exon variant G/C snv 0.14 0.020 1.000 2 2013 2015
dbSNP: rs772820424
rs772820424
1 1.000 0.080 15 98891613 missense variant G/A snv 5.0E-05 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs78761021
rs78761021
1 1.000 0.080 17 9877070 intron variant A/G snv 0.22 0.700 1.000 1 2017 2017
dbSNP: rs9285630
rs9285630
1 1.000 0.080 1 98677991 intron variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs3739670
rs3739670
2 0.925 0.120 9 98056910 missense variant C/G;T snv 4.2E-06; 0.27 0.010 1.000 1 2008 2008
dbSNP: rs234146
rs234146
1 1.000 0.080 14 97688175 intron variant T/C snv 0.85 0.700 1.000 1 2013 2013
dbSNP: rs1466100
rs1466100
1 1.000 0.080 2 97655376 downstream gene variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.050 1.000 5 2009 2014
dbSNP: rs2072668
rs2072668
14 0.732 0.280 3 9756456 intron variant C/G snv 0.28 0.24 0.010 1.000 1 2010 2010
dbSNP: rs1801126
rs1801126
1 1.000 0.080 3 9750269 5 prime UTR variant G/T snv 4.4E-03 2.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs1801129
rs1801129
1 1.000 0.080 3 9750264 5 prime UTR variant A/G snv 1.2E-03 4.5E-04 0.010 1.000 1 2013 2013
dbSNP: rs56387615
rs56387615
1 1.000 0.080 3 9750234 5 prime UTR variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs750392184
rs750392184
3 0.882 0.160 1 9724850 missense variant G/A snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1799904
rs1799904
2 1.000 0.080 5 96429259 missense variant C/A;T snv 4.0E-06; 2.1E-03 0.010 1.000 1 1996 1996
dbSNP: rs3811951
rs3811951
2 0.925 0.120 5 96426773 intron variant A/G snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs6234
rs6234
8 0.851 0.160 5 96393270 missense variant G/C snv 0.27 0.24 0.010 1.000 1 1996 1996
dbSNP: rs12050217
rs12050217
6 0.827 0.160 14 96262416 intron variant A/G snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs79890196
rs79890196
1 1.000 0.080 15 95945146 intergenic variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10247649
rs10247649
2 0.925 0.080 7 95586935 non coding transcript exon variant A/G snv 0.43 0.010 1.000 1 2012 2012