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: rs12075
rs12075
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.020 1.000 2 2011 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2005 2008
dbSNP: rs11558492
rs11558492
5 0.827 0.200 1 231272345 missense variant A/G;T snv 0.16 0.010 < 0.001 1 2017 2017
dbSNP: rs3480
rs3480
8 0.807 0.160 1 32862564 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs4374383
rs4374383
10 0.776 0.200 2 112013193 intron variant A/G snv 0.58 0.030 1.000 3 2016 2018
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2018 2018
dbSNP: rs13412852
rs13412852
4 0.851 0.120 2 11774815 intron variant C/T snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs780094
rs780094
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs900837802
rs900837802
1 1.000 0.080 2 88595498 missense variant T/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2014 2014
dbSNP: rs1050450
rs1050450
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2016 2016
dbSNP: rs16851720
rs16851720
5 0.827 0.120 3 141744456 intron variant A/C snv 0.21 0.010 < 0.001 1 2017 2017
dbSNP: rs10336
rs10336
4 0.851 0.240 4 76001835 3 prime UTR variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs10433937
rs10433937
4 0.882 0.080 4 87308948 intron variant T/A;C;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs10833
rs10833
10 0.776 0.160 4 141733394 3 prime UTR variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs17047200
rs17047200
5 0.827 0.200 4 166008836 intron variant A/T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs3921
rs3921
8 0.807 0.240 4 76021790 3 prime UTR variant C/G snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 1.000 1 2012 2012
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.010 < 0.001 1 2018 2018
dbSNP: rs4619915
rs4619915
3 0.882 0.120 4 76034048 3 prime UTR variant A/G snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs72613567
rs72613567
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.010 < 0.001 1 2019 2019
dbSNP: rs1800925
rs1800925
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2015 2015