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: rs3093059
rs3093059
CRP
11 0.752 0.520 1 159715346 upstream gene variant A/G snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs72791417
rs72791417
1 1.000 0.080 10 65983896 intron variant A/T snv 0.11 0.800 1.000 1 2013 2013
dbSNP: rs1457319153
rs1457319153
1 1.000 0.080 3 49531991 missense variant A/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs480414
rs480414
2 1.000 0.080 1 85461780 intron variant G/A snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs5927969
rs5927969
DMD
1 1.000 0.080 X 32331318 intron variant T/A;G snv 0.700 1.000 1 2011 2011
dbSNP: rs7887541
rs7887541
DMD
1 1.000 0.080 X 32053387 intron variant T/C snv 0.29 0.700 1.000 1 2011 2011
dbSNP: rs322351
rs322351
3 0.925 0.160 5 172767870 intron variant C/T snv 0.37 0.010 1.000 1 2020 2020
dbSNP: rs1042606
rs1042606
1 1.000 0.080 10 110510917 3 prime UTR variant A/C snv 0.64 0.010 1.000 1 2020 2020
dbSNP: rs3793892
rs3793892
1 1.000 0.080 10 110505377 intron variant G/T snv 0.65 0.010 1.000 1 2020 2020
dbSNP: rs1938516
rs1938516
2 0.925 0.120 1 187433789 intron variant T/A snv 5.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs174576
rs174576
14 0.851 0.200 11 61836038 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs11199993
rs11199993
2 0.925 0.120 10 121531750 intron variant G/C snv 4.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs1966265
rs1966265
8 0.827 0.160 5 177089630 missense variant G/A;T snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs3800373
rs3800373
22 0.752 0.200 6 35574699 3 prime UTR variant C/A snv 0.68 0.010 1.000 1 2019 2019
dbSNP: rs187269
rs187269
6 0.827 0.160 5 161329618 3 prime UTR variant A/G snv 0.34 0.010 1.000 1 2009 2009
dbSNP: rs2546620
rs2546620
3 0.882 0.120 5 161332120 intron variant T/C snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs602201
rs602201
2 0.925 0.120 18 11882269 3 prime UTR variant T/A snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs7975
rs7975
9 0.763 0.320 14 77326864 stop gained G/A;C;T snv 0.31 0.32 0.010 1.000 1 2012 2012
dbSNP: rs1128306
rs1128306
2 0.925 0.120 6 29975492 non coding transcript exon variant G/A snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2014 2014
dbSNP: rs3771171
rs3771171
2 1.000 0.080 2 102369490 intron variant T/C snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs3771150
rs3771150
1 1.000 0.080 2 102444391 intron variant G/A snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs4829242
rs4829242
1 1.000 0.080 X 29613413 intron variant C/T snv 0.35 0.700 1.000 1 2011 2011
dbSNP: rs6526874
rs6526874
1 1.000 0.080 X 29508403 intron variant T/A;C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs3786285
rs3786285
2 0.925 0.120 18 12008848 intron variant A/C;G snv 0.010 1.000 1 2010 2010