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: rs1076560
rs1076560
11 0.776 0.120 11 113412966 intron variant C/A snv 0.16 0.020 1.000 2 2007 2014
dbSNP: rs1079597
rs1079597
5 0.827 0.080 11 113425564 intron variant C/T snv 0.18 0.020 1.000 2 2014 2017
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.020 1.000 2 2011 2013
dbSNP: rs1614972
rs1614972
4 0.925 0.160 4 99336998 intron variant C/T snv 0.38 0.710 1.000 2 2013 2014
dbSNP: rs1800759
rs1800759
4 0.925 0.120 4 99144358 intron variant T/G snv 0.49 0.020 1.000 2 2006 2011
dbSNP: rs1997794
rs1997794
4 0.851 0.120 20 1994212 5 prime UTR variant T/C snv 0.50 0.020 1.000 2 2013 2018
dbSNP: rs2173201
rs2173201
3 1.000 0.080 4 99329813 intron variant C/A snv 0.30 0.710 1.000 2 2014 2014
dbSNP: rs2235751
rs2235751
3 0.882 0.120 20 1989288 intron variant A/G snv 0.40 0.020 1.000 2 2013 2017
dbSNP: rs2281285
rs2281285
2 0.925 0.080 20 1991814 intron variant T/C snv 0.16 0.020 1.000 2 2013 2015
dbSNP: rs248793
rs248793
1 1.000 0.080 5 6633666 synonymous variant C/G snv 0.55 0.58 0.020 1.000 2 2011 2014
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.020 0.500 2 2015 2020
dbSNP: rs29220
rs29220
1 1.000 0.080 6 29621889 intron variant C/G snv 0.31 0.020 1.000 2 2016 2018
dbSNP: rs3027172
rs3027172
2 0.925 0.080 17 8152405 missense variant A/G snv 0.38 0.17 0.020 1.000 2 2011 2015
dbSNP: rs324650
rs324650
5 0.827 0.080 7 137008914 intron variant T/A snv 0.55 0.020 1.000 2 2004 2011
dbSNP: rs35385902
rs35385902
9 0.807 0.240 4 99347122 missense variant C/A;T snv 2.0E-05; 1.1E-03 0.020 1.000 2 2005 2018
dbSNP: rs363387
rs363387
1 1.000 0.080 10 117244053 synonymous variant T/A;C;G snv 4.0E-06; 7.9E-02 0.020 1.000 2 2005 2013
dbSNP: rs3762894
rs3762894
2 1.000 0.080 4 99144933 intron variant T/C snv 0.19 0.020 1.000 2 2011 2011
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.020 1.000 2 2006 2014
dbSNP: rs6350
rs6350
3 0.882 0.080 5 1443084 missense variant G/A;C snv 5.6E-02; 6.8E-05 0.020 1.000 2 2009 2017
dbSNP: rs6691840
rs6691840
5 0.827 0.120 1 36859876 missense variant A/C;G snv 0.27; 9.2E-05 0.020 0.500 2 2006 2013
dbSNP: rs6857715
rs6857715
5 0.827 0.160 4 155208030 non coding transcript exon variant C/A;T snv 0.020 1.000 2 2010 2017
dbSNP: rs6943555
rs6943555
5 0.882 0.080 7 70341037 intron variant T/A snv 0.34 0.020 1.000 2 2016 2017
dbSNP: rs7103411
rs7103411
15 0.752 0.160 11 27678578 intron variant C/T snv 0.82 0.020 1.000 2 2011 2015
dbSNP: rs886205
rs886205
8 0.827 0.360 12 111766623 intron variant A/G snv 0.35 0.020 1.000 2 2016 2017
dbSNP: rs896543
rs896543
3 1.000 0.080 2 236600564 intergenic variant G/A snv 0.33 0.800 1.000 2 2013 2014