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: rs76980269
rs76980269
10 0.763 0.280 12 117330794 synonymous variant G/A snv 2.8E-05 4.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs6852535
rs6852535
1 1.000 0.120 4 122557561 intergenic variant G/A snv 0.24 0.800 1.000 1 2011 2011
dbSNP: rs2045091
rs2045091
1 1.000 0.120 8 130063613 intron variant C/T snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs201795631
rs201795631
3 0.882 0.200 9 132349336 missense variant T/C;G snv 8.0E-06; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs368453549
rs368453549
1 1.000 0.120 19 15272936 missense variant T/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1801582
rs1801582
3 0.925 0.120 6 161386823 missense variant C/G;T snv 0.16; 3.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs137853058
rs137853058
3 0.882 0.120 6 161973401 missense variant C/T snv 1.2E-05 0.020 1.000 2 2002 2002
dbSNP: rs4239633
rs4239633
4 0.851 0.240 19 17631660 intron variant C/T snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs1475170339
rs1475170339
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs57113693
rs57113693
1 1.000 0.120 1 180983158 intron variant C/T snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs1411478
rs1411478
3 0.925 0.120 1 180993146 intron variant A/G snv 0.56 0.810 1.000 2 2011 2013
dbSNP: rs621042
rs621042
1 1.000 0.120 12 18636073 intron variant C/A snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs11568563
rs11568563
2 0.925 0.240 12 21304500 missense variant T/G snv 4.5E-02 4.4E-02 0.810 1.000 2 2011 2012
dbSNP: rs7966334
rs7966334
1 1.000 0.120 12 21314281 intron variant C/G snv 0.95 0.700 1.000 1 2018 2018
dbSNP: rs6687758
rs6687758
11 0.763 0.200 1 221991606 regulatory region variant A/G snv 0.20 0.810 1.000 2 2011 2018
dbSNP: rs12125383
rs12125383
1 1.000 0.120 1 221995092 regulatory region variant G/A snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs564309
rs564309
1 1.000 0.120 1 228397861 intron variant C/A snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs3849942
rs3849942
9 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs13302855
rs13302855
3 0.882 0.200 9 27595997 intergenic variant C/T snv 7.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1038579230
rs1038579230
VCP
3 0.882 0.200 9 35067913 missense variant C/A snv 0.010 1.000 1 2016 2016
dbSNP: rs10675541
rs10675541
1 1.000 0.120 3 39468795 intron variant -/CA delins 0.700 1.000 1 2018 2018
dbSNP: rs1768208
rs1768208
4 0.851 0.200 3 39481512 intron variant T/C snv 0.76 0.830 1.000 4 2011 2016
dbSNP: rs12203592
rs12203592
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.800 1.000 1 2011 2011
dbSNP: rs10878245
rs10878245
1 1.000 0.120 12 40237989 missense variant T/A;C snv 0.52 0.010 1.000 1 2017 2017