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: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 < 0.001 1 2014 2014
dbSNP: rs5522
rs5522
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.050 1.000 5 2010 2015
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 0.500 2 2010 2011
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2018 2018
dbSNP: rs10410544
rs10410544
6 0.827 0.120 19 38894892 intron variant T/C snv 0.68 0.67 0.010 1.000 1 2013 2013
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2019 2019
dbSNP: rs7813
rs7813
22 0.689 0.360 17 744946 missense variant G/A;C snv 0.63 0.010 1.000 1 2012 2012
dbSNP: rs7305115
rs7305115
8 0.807 0.200 12 71979082 synonymous variant A/C;G;T snv 4.0E-06; 0.56 0.020 1.000 2 2014 2015
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 2018 2018
dbSNP: rs2070951
rs2070951
9 0.776 0.320 4 148436862 splice region variant G/A;C snv 4.2E-06; 0.53 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 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2014 2015
dbSNP: rs2291739
rs2291739
6 0.925 0.080 12 56420869 missense variant G/A;C snv 0.49; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2018 2018
dbSNP: rs1044397
rs1044397
7 0.851 0.160 20 63349752 synonymous variant C/T snv 0.48 0.41 0.010 1.000 1 2015 2015
dbSNP: rs1044396
rs1044396
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.030 1.000 3 2012 2015
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2013 2013
dbSNP: rs2077647
rs2077647
16 0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46 0.010 1.000 1 2018 2018
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.857 21 2008 2019
dbSNP: rs2522833
rs2522833
7 0.827 0.080 7 82824392 missense variant A/C snv 0.45 0.34 0.030 0.667 3 2010 2014
dbSNP: rs13440581
rs13440581
5 0.882 0.080 X 151181399 missense variant A/G snv 0.45 0.45 0.010 1.000 1 2015 2015
dbSNP: rs561077
rs561077
4 0.882 0.080 X 151181177 missense variant A/G snv 0.43 0.45 0.010 1.000 1 2015 2015
dbSNP: rs2291738
rs2291738
8 0.807 0.160 12 56421497 splice region variant T/C snv 0.43 0.39 0.010 1.000 1 2010 2010
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.050 1.000 5 2006 2014
dbSNP: rs1799913
rs1799913
5 0.851 0.080 11 18025708 splice region variant G/A;T snv 0.39 0.33 0.010 1.000 1 2018 2018