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: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 < 0.001 1 2001 2001
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2000 2000
dbSNP: rs2076530
rs2076530
17 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.700 1.000 1 2009 2009
dbSNP: rs9275572
rs9275572
15 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.010 1.000 1 2000 2000
dbSNP: rs3087456
rs3087456
14 0.742 0.480 16 10877045 intron variant G/A snv 0.53 0.010 1.000 1 2006 2006
dbSNP: rs6457617
rs6457617
11 0.763 0.480 6 32696074 intergenic variant C/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs7775228
rs7775228
7 0.790 0.360 6 32690302 TF binding site variant T/C snv 0.15 0.700 1.000 1 2009 2009
dbSNP: rs9268853
rs9268853
10 0.790 0.440 6 32461866 intron variant T/C snv 0.29 0.700 1.000 1 2009 2009
dbSNP: rs9272346
rs9272346
8 0.790 0.320 6 32636595 intron variant G/A snv 0.54 0.700 1.000 1 2009 2009
dbSNP: rs9268856
rs9268856
6 0.807 0.240 6 32461942 intron variant C/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs9461799
rs9461799
6 0.807 0.360 6 32721752 downstream gene variant T/C snv 0.37 0.700 1.000 1 2009 2009
dbSNP: rs3806156
rs3806156
5 0.827 0.280 6 32405921 intron variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs7194
rs7194
7 0.827 0.280 6 32444703 3 prime UTR variant G/A snv 0.61 0.700 1.000 1 2009 2009
dbSNP: rs9268402
rs9268402
5 0.827 0.200 6 32373576 intron variant G/A snv 0.45 0.700 1.000 1 2009 2009
dbSNP: rs9268645
rs9268645
5 0.827 0.360 6 32440750 intron variant C/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs9268877
rs9268877
5 0.827 0.200 6 32463370 intron variant A/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs9469220
rs9469220
5 0.827 0.160 6 32690533 TF binding site variant G/A snv 0.53 0.700 1.000 1 2009 2009
dbSNP: rs2289702
rs2289702
4 0.851 0.120 15 78944951 missense variant C/T snv 9.3E-02 7.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs3129768
rs3129768
4 0.851 0.240 6 32627306 upstream gene variant G/T snv 0.76 0.700 1.000 1 2009 2009
dbSNP: rs615672
rs615672
6 0.851 0.240 6 32606394 intergenic variant G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs9268831
rs9268831
4 0.851 0.280 6 32459971 non coding transcript exon variant C/T snv 0.54 0.51 0.700 1.000 1 2009 2009
dbSNP: rs9273363
rs9273363
4 0.851 0.280 6 32658495 upstream gene variant C/A snv 0.23 0.700 1.000 1 2009 2009
dbSNP: rs10995245
rs10995245
3 0.882 0.160 10 62631615 intron variant G/A;C snv 0.800 1.000 2 2013 2013
dbSNP: rs1086603
rs1086603
3 0.882 0.120 1 147816164 intergenic variant G/A snv 3.4E-02 0.700 1.000 1 2009 2009