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: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.790 0.800 10 2010 2017
dbSNP: rs10392
rs10392
6 0.882 0.160 20 38922292 3 prime UTR variant G/A snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs10401969
rs10401969
25 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.700 1.000 1 2015 2015
dbSNP: rs626283
rs626283
7 0.827 0.160 19 54173307 upstream gene variant C/G snv 0.61 0.700 1.000 1 2015 2015
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2002 2010
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.020 1.000 2 2009 2016
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2018 2018
dbSNP: rs2228603
rs2228603
12 0.790 0.360 19 19219115 missense variant C/A;T snv 2.8E-05; 5.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs2303015
rs2303015
4 0.851 0.160 17 48852546 missense variant T/C snv 7.4E-02 0.12 0.010 1.000 1 2016 2016
dbSNP: rs4074
rs4074
6 0.827 0.200 4 73870427 intron variant A/G snv 0.46 0.010 1.000 1 2013 2013
dbSNP: rs441
rs441
4 0.882 0.200 12 111791045 intron variant T/C snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs58542926
rs58542926
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs641738
rs641738
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs752949
rs752949
3 0.925 0.160 11 35306201 synonymous variant C/T snv 0.23 0.22 0.010 1.000 1 2004 2004