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: rs10810657
rs10810657
7 0.827 0.080 9 16884588 regulatory region variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs11206510
rs11206510
16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs12296850
rs12296850
3 0.925 0.080 12 100426307 downstream gene variant A/G snv 8.7E-02 0.710 1.000 1 2013 2013
dbSNP: rs1246946
rs1246946
4 0.851 0.040 6 4979722 downstream gene variant C/T snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs1412115
rs1412115
2 0.925 0.080 10 33799125 regulatory region variant T/C snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs35324266
rs35324266
1 1.000 0.040 6 32625467 upstream gene variant C/T snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs4761496
rs4761496
4 0.851 0.040 12 94733833 regulatory region variant T/A;C snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs62209647
rs62209647
1 1.000 0.040 20 33917852 upstream gene variant G/C snv 4.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs6503659
rs6503659
2 1.000 0.040 17 41741012 intergenic variant A/C;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs6791479
rs6791479
1 1.000 0.040 3 189487243 intergenic variant T/A snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs7097008
rs7097008
1 1.000 0.040 10 67849782 non coding transcript exon variant C/A snv 0.60 0.010 1.000 1 2013 2013
dbSNP: rs7309332
rs7309332
3 1.000 0.040 12 7938243 upstream gene variant T/C snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs7335046
rs7335046
7 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 0.010 1.000 1 2011 2011
dbSNP: rs74664507
rs74664507
3 1.000 0.040 9 16913838 upstream gene variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs75790006
rs75790006
4 0.851 0.040 4 43211547 intron variant T/G snv 1.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs8067378
rs8067378
12 0.752 0.240 17 39895095 regulatory region variant A/G snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs9557210
rs9557210
1 1.000 0.040 13 99395250 intergenic variant G/A snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs9651495
rs9651495
1 1.000 0.040 10 89172624 regulatory region variant G/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs4299376
rs4299376
11 0.851 0.120 2 43845437 intron variant G/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs774121564
rs774121564
1 1.000 0.040 2 275197 missense variant C/G snv 4.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2019 2019
dbSNP: rs1800625
rs1800625
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2498801
rs2498801
7 0.790 0.120 14 104769221 upstream gene variant T/C snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2019 2019