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: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.050 1.000 5 2004 2020
dbSNP: rs12043259
rs12043259
2 1 204858913 intron variant C/G snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs678849
rs678849
5 0.882 0.120 1 28818676 intron variant C/T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs2377339
rs2377339
2 2 105840835 intron variant A/G snv 4.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs2952621
rs2952621
4 0.882 0.080 2 129240870 downstream gene variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs772527880
rs772527880
1 2 227531108 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1803274
rs1803274
13 0.763 0.360 3 165773492 missense variant C/T snv 0.18 0.18 0.010 1.000 1 2019 2019
dbSNP: rs3495
rs3495
3 0.925 0.160 3 165773193 3 prime UTR variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs604300
rs604300
3 1.000 0.080 3 127724009 intron variant A/G snv 0.91 0.010 1.000 1 2015 2015
dbSNP: rs1040288
rs1040288
3 1.000 0.040 4 148126966 intron variant G/C snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs11503014
rs11503014
2 1.000 0.080 4 46388848 5 prime UTR variant C/G snv 0.27 0.010 1.000 1 2010 2010
dbSNP: rs230530
rs230530
4 0.882 0.080 4 102532823 intron variant A/G snv 0.37 0.010 1.000 1 2015 2015
dbSNP: rs1875999
rs1875999
1 5 76969157 3 prime UTR variant T/C snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.090 1.000 9 2004 2019
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2018 2018
dbSNP: rs1212415280
rs1212415280
2 6 43771130 missense variant G/T snv 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs2023239
rs2023239
20 0.724 0.160 6 88150763 intron variant T/C snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs2180619
rs2180619
3 1.000 0.040 6 88168233 upstream gene variant G/A snv 0.53 0.010 1.000 1 2014 2014
dbSNP: rs769540300
rs769540300
8 0.851 0.200 6 154091047 missense variant G/A snv 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs796065354
rs796065354
9 0.882 0.080 6 151944320 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs9444584
rs9444584
4 0.882 0.160 6 88152840 intron variant C/T snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs9450898
rs9450898
3 0.925 0.160 6 88154344 intron variant C/T snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2013 2013
dbSNP: rs17228602
rs17228602
2 7 100890786 3 prime UTR variant C/T snv 1.5E-02 0.010 1.000 1 2019 2019