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: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.860 0.900 10 2008 2015
dbSNP: rs559928
rs559928
6 0.827 0.120 11 64382898 intergenic variant T/C snv 0.77 0.700 1.000 1 2016 2016
dbSNP: rs7313895
rs7313895
5 0.827 0.120 12 40350592 intron variant G/T snv 0.77 0.700 1.000 1 2016 2016
dbSNP: rs4833837
rs4833837
5 0.827 0.200 4 122615808 synonymous variant G/A snv 0.74 0.77 0.010 1.000 1 2015 2015
dbSNP: rs6548123
rs6548123
2 0.925 0.120 2 2221629 intron variant C/T snv 0.76 0.700 1.000 1 2015 2015
dbSNP: rs10088247
rs10088247
1 1.000 0.040 8 3826677 intron variant C/T snv 0.76 0.700 1.000 1 2010 2010
dbSNP: rs482160
rs482160
1 1.000 0.040 18 12855647 intron variant A/G snv 0.76 0.010 1.000 1 2019 2019
dbSNP: rs1570360
rs1570360
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2014 2014
dbSNP: rs2451258
rs2451258
6 0.807 0.160 6 159085568 intron variant C/T snv 0.75 0.800 1.000 2 2012 2016
dbSNP: rs7007032
rs7007032
1 1.000 0.040 8 3821924 intron variant C/T snv 0.75 0.700 1.000 1 2010 2010
dbSNP: rs6478109
rs6478109
12 0.752 0.320 9 114806486 upstream gene variant A/G snv 0.74 0.010 1.000 1 2014 2014
dbSNP: rs7848647
rs7848647
13 0.732 0.320 9 114806766 upstream gene variant T/C snv 0.74 0.700 1.000 1 2016 2016
dbSNP: rs3751385
rs3751385
1 1.000 0.040 13 20188817 3 prime UTR variant A/G snv 0.74 0.710 1.000 2 2010 2012
dbSNP: rs12075255
rs12075255
5 0.827 0.120 1 206788283 intron variant A/G snv 0.74 0.700 1.000 1 2016 2016
dbSNP: rs6478108
rs6478108
10 0.763 0.200 9 114796423 intron variant C/T snv 0.73 0.010 1.000 1 2017 2017
dbSNP: rs9807841
rs9807841
1 1.000 0.040 19 10706980 intron variant T/C snv 0.73 0.700 1.000 1 2015 2015
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 1.000 2 2014 2015
dbSNP: rs2066363
rs2066363
14 0.724 0.240 1 81771892 intron variant C/T snv 0.71 0.700 1.000 1 2015 2015
dbSNP: rs2944542
rs2944542
2 0.925 0.120 10 62610240 intron variant C/G snv 0.71 0.700 1.000 1 2017 2017
dbSNP: rs2357623
rs2357623
5 0.827 0.120 16 50660100 upstream gene variant A/G snv 0.71 0.700 1.000 1 2016 2016
dbSNP: rs2787094
rs2787094
4 0.851 0.160 20 3668514 3 prime UTR variant C/G snv 0.71 0.010 1.000 1 2014 2014
dbSNP: rs27044
rs27044
5 0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71 0.710 1.000 2 2015 2017
dbSNP: rs9513593
rs9513593
1 1.000 0.040 13 99298006 intron variant G/A snv 0.71 0.700 1.000 1 2017 2017
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.050 1.000 5 2014 2019
dbSNP: rs643177
rs643177
1 1.000 0.040 6 137874556 intron variant T/C snv 0.70 0.700 1.000 2 2015 2015