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: rs2747648
rs2747648
2 0.925 0.080 6 152101200 3 prime UTR variant C/T snv 0.98 0.010 1.000 1 2012 2012
dbSNP: rs1586840
rs1586840
1 1.000 0.080 12 19909563 intron variant G/A snv 0.96 0.700 1.000 1 2010 2010
dbSNP: rs132390
rs132390
2 0.925 0.080 22 29225488 intron variant C/T snv 0.96 0.700 1.000 1 2013 2013
dbSNP: rs828200
rs828200
2 0.925 0.080 13 90718206 regulatory region variant C/T snv 0.96 0.010 1.000 1 2014 2014
dbSNP: rs2206593
rs2206593
3 0.925 0.080 1 186673297 3 prime UTR variant A/G snv 0.95 0.010 < 0.001 1 2015 2015
dbSNP: rs4896011
rs4896011
2 0.925 0.080 6 133893615 3 prime UTR variant A/T snv 0.94 0.010 1.000 1 2016 2016
dbSNP: rs4759314
rs4759314
31 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 0.030 0.667 3 2017 2018
dbSNP: rs11085735
rs11085735
2 0.925 0.080 19 10491504 intron variant A/C snv 0.92 0.010 1.000 1 2015 2015
dbSNP: rs1801726
rs1801726
13 0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92 0.010 1.000 1 2017 2017
dbSNP: rs2665390
rs2665390
8 0.776 0.160 3 156679960 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017
dbSNP: rs7581886
rs7581886
18 0.708 0.320 2 100964784 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017
dbSNP: rs861529
rs861529
2 0.925 0.080 14 103712977 3 prime UTR variant T/C snv 0.91 0.010 1.000 1 2007 2007
dbSNP: rs7558475
rs7558475
2 0.925 0.080 2 201171755 3 prime UTR variant G/A snv 0.90 0.010 1.000 1 2017 2017
dbSNP: rs7766238
rs7766238
2 0.925 0.080 6 133893438 3 prime UTR variant A/G snv 0.90 0.010 1.000 1 2016 2016
dbSNP: rs6556756
rs6556756
3 0.882 0.160 5 164462274 intron variant G/T snv 0.89 0.700 1.000 1 2007 2007
dbSNP: rs6721961
rs6721961
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 1.000 1 2012 2012
dbSNP: rs1802904
rs1802904
ATR ; XRN1
2 0.925 0.080 3 142449489 synonymous variant C/T snv 0.86 0.89 0.010 1.000 1 2013 2013
dbSNP: rs198580
rs198580
RB1
2 0.925 0.080 13 48459611 intron variant G/A snv 0.89 0.010 1.000 1 2006 2006
dbSNP: rs1675126
rs1675126
3 0.925 0.080 11 62138902 synonymous variant T/C snv 0.84 0.88 0.010 1.000 1 2015 2015
dbSNP: rs833052
rs833052
5 0.827 0.160 6 43755598 intergenic variant A/C snv 0.88 0.010 1.000 1 2012 2012
dbSNP: rs623590
rs623590
2 0.925 0.080 18 24463389 intron variant T/A;C snv 0.88 0.010 1.000 1 2013 2013
dbSNP: rs2241745
rs2241745
4 0.882 0.120 13 109770184 intron variant C/T snv 0.88 0.010 1.000 1 2019 2019
dbSNP: rs9325782
rs9325782
6 0.851 0.120 8 16232964 intron variant C/T snv 0.87 0.010 1.000 1 2007 2007
dbSNP: rs2745559
rs2745559
2 0.925 0.080 1 186682870 upstream gene variant A/C;T snv 0.87 0.010 1.000 1 2011 2011
dbSNP: rs518162
rs518162
2 0.925 0.080 11 101129770 5 prime UTR variant A/G snv 0.86 0.010 1.000 1 2008 2008