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: rs10196867
rs10196867
5 0.925 0.080 2 79751234 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1022563
rs1022563
2 0.925 0.080 20 1973693 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1042114
rs1042114
6 0.807 0.120 1 28812463 missense variant G/C;T snv 0.91 0.010 1.000 1 2002 2002
dbSNP: rs11030096
rs11030096
3 0.925 0.160 11 27643996 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1122079
rs1122079
1 1.000 0.080 17 65218385 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1137070
rs1137070
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs130058
rs130058
8 0.790 0.120 6 77463564 5 prime UTR variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs1389752
rs1389752
2 0.925 0.080 9 13235288 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1530351
rs1530351
2 0.925 0.080 17 65135491 intron variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs16917234
rs16917234
2 0.925 0.080 11 27676827 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1714984
rs1714984
1 1.000 0.080 17 12714384 intron variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2270162
rs2270162
1 1.000 0.080 7 69596980 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2288156
rs2288156
1 1.000 0.080 17 8741536 missense variant C/A;T snv 4.0E-06; 8.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs265981
rs265981
3 0.925 0.080 5 175443899 5 prime UTR variant A/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs274618
rs274618
1 1.000 0.080 7 86642700 upstream gene variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs2910709
rs2910709
4 0.882 0.120 5 37811762 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3219790
rs3219790
1 1.000 0.080 16 10183568 upstream gene variant CACACACACACACACACA/-;CA;CACA;CACACA;CACACACA;CACACACACA;CACACACACACA;CACACACACACACA;CACACACACACACACA;CACACACACACACACACACA;CACACACACACACACACACACA;CACACACACACACACACACACACA;CACACACACACACACACACACACACA;CACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACACACACA delins 0.010 1.000 1 2013 2013
dbSNP: rs4648319
rs4648319
1 1.000 0.080 11 113443641 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs4791746
rs4791746
1 1.000 0.080 17 8723039 intergenic variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs6556547
rs6556547
2 0.925 0.080 5 161333168 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs686
rs686
9 0.807 0.080 5 175441697 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs751416416
rs751416416
5 0.882 0.120 8 53250920 missense variant C/A;T snv 8.3E-06; 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs768020372
rs768020372
1 1.000 0.080 12 111792761 missense variant C/G;T snv 6.3E-06 0.010 1.000 1 2002 2002