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: rs4324798
rs4324798
8 0.790 0.240 6 28808340 intergenic variant G/A snv 7.2E-02 0.020 1.000 2 2010 2011
dbSNP: rs114033761
rs114033761
1 1.000 0.080 6 31093784 regulatory region variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs141670911
rs141670911
1 1.000 0.080 6 26581030 intergenic variant A/T snv 7.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs141877527
rs141877527
1 1.000 0.080 10 33497992 intergenic variant A/G snv 7.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs312599
rs312599
1 1.000 0.080 5 143998425 intergenic variant C/T snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs439680
rs439680
3 1.000 0.080 5 109998341 regulatory region variant C/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs716274
rs716274
1 1.000 0.080 11 103547430 intergenic variant A/G snv 0.51 0.700 1.000 1 2010 2010
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2006 2012
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs717620
rs717620
10 0.763 0.240 10 99782821 5 prime UTR variant C/T snv 0.17 0.15 0.010 1.000 1 2012 2012
dbSNP: rs8049634
rs8049634
1 1.000 0.080 16 84192073 intron variant A/G snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs17185553
rs17185553
1 1.000 0.080 9 17934122 intron variant G/C snv 6.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs74501188
rs74501188
1 1.000 0.080 5 90931162 5 prime UTR variant G/A snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs4513061
rs4513061
6 0.807 0.080 15 86428401 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1023835002
rs1023835002
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877
10 0.763 0.280 15 44711549 start lost G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
10 0.763 0.280 15 44711548 start lost T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs2279115
rs2279115
18 0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs140013431
rs140013431
1 1.000 0.080 6 7770278 intron variant T/C snv 1.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs11571833
rs11571833
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.710 1.000 2 2017 2018
dbSNP: rs12200782
rs12200782
1 1.000 0.080 6 26402808 intron variant C/G snv 7.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs4353229
rs4353229
6 0.807 0.160 10 113729830 3 prime UTR variant T/C snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs1045494
rs1045494
3 0.882 0.120 2 201287058 3 prime UTR variant T/C snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs3787728
rs3787728
5 0.851 0.080 21 36071595 intron variant T/C snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs1535045
rs1535045
12 0.742 0.360 20 46119460 intron variant C/A;G;T snv 0.010 1.000 1 2016 2016