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: rs848
rs848
8 0.807 0.240 5 132660808 3 prime UTR variant A/C snv 0.67 0.020 1.000 2 2009 2011
dbSNP: rs281875214
rs281875214
7 0.790 0.160 17 80183976 missense variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs4908742
rs4908742
2 0.925 0.080 1 8184970 upstream gene variant A/C snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs76956521
rs76956521
1 1.000 0.080 5 151085080 intron variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.020 1.000 2 2011 2011
dbSNP: rs2066808
rs2066808
8 0.807 0.280 12 56344189 intron variant A/G snv 0.21 0.020 1.000 2 2013 2019
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 0.500 2 2006 2015
dbSNP: rs10865331
rs10865331
5 0.827 0.120 2 62324337 intergenic variant A/G snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs2248374
rs2248374
4 0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54 0.010 1.000 1 2016 2016
dbSNP: rs28724231
rs28724231
1 1.000 0.080 6 32659314 upstream gene variant A/G snv 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs4535211
rs4535211
1 1.000 0.080 3 17031505 intron variant A/G snv 0.60 0.010 1.000 1 2012 2012
dbSNP: rs4921483
rs4921483
1 1.000 0.080 5 159341357 intron variant A/G snv 0.89 0.700 1.000 1 2019 2019
dbSNP: rs71562294
rs71562294
2 0.925 0.080 6 111484775 non coding transcript exon variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs744166
rs744166
22 0.689 0.560 17 42362183 intron variant A/G snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs4112788
rs4112788
4 0.851 0.120 1 152578800 downstream gene variant A/G;T snv 0.030 0.667 3 2010 2014
dbSNP: rs2201841
rs2201841
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.020 1.000 2 2012 2014
dbSNP: rs12188300
rs12188300
6 0.807 0.120 5 159402519 intron variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs115928623
rs115928623
1 1.000 0.080 6 29971371 intron variant A/T snv 0.700 1.000 1 2019 2019
dbSNP: rs116340302
rs116340302
1 1.000 0.080 6 31528604 non coding transcript exon variant A/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1347671835
rs1347671835
5 0.827 0.160 16 88639888 missense variant C/A;G snv 4.3E-06 0.010 1.000 1 2019 2019
dbSNP: rs200215055
rs200215055
11 0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs115145466
rs115145466
1 1.000 0.080 6 32251264 upstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs115872194
rs115872194
1 1.000 0.080 6 31639897 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1610601
rs1610601
1 1.000 0.080 6 29732406 intron variant C/A;T snv 0.20 0.700 1.000 1 2019 2019