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: rs1978340
rs1978340
1 1.000 0.080 2 170813611 non coding transcript exon variant G/A snv 0.25 0.010 1.000 1 2012 2012
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: rs769395
rs769395
1 1.000 0.080 2 170860293 3 prime UTR variant G/A snv 0.76 0.010 1.000 1 2012 2012
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: rs1650420
rs1650420
2 1.000 0.080 16 10174473 intron variant T/C snv 0.58 0.010 1.000 1 2013 2013
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: rs3104703
rs3104703
1 1.000 0.080 16 9971279 intron variant T/G snv 0.48 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: rs4492854
rs4492854
1 1.000 0.080 11 113112812 intron variant C/T snv 0.57 0.010 1.000 1 2013 2013
dbSNP: rs62638690
rs62638690
2 0.925 0.080 6 154090110 missense variant G/T snv 5.6E-03 5.6E-03 0.010 1.000 1 2013 2013
dbSNP: rs884344
rs884344
5 0.882 0.120 5 37824138 intron variant A/C snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.020 1.000 2 2009 2014
dbSNP: rs6943555
rs6943555
5 0.882 0.080 7 70341037 intron variant T/A snv 0.34 0.020 1.000 2 2013 2014
dbSNP: rs135745
rs135745
13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs1534891
rs1534891
5 0.827 0.200 22 38299094 intron variant T/C snv 0.90 0.010 1.000 1 2014 2014
dbSNP: rs1997644
rs1997644
1 1.000 0.080 22 38319217 intron variant G/A snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs2270162
rs2270162
1 1.000 0.080 7 69596980 intron variant C/G;T snv 0.010 1.000 1 2014 2014
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: rs274622
rs274622
2 0.925 0.080 7 86643624 upstream gene variant C/T snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs4906902
rs4906902
14 0.724 0.200 15 26774621 intron variant A/G snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs5376
rs5376
1 1.000 0.080 18 77268853 missense variant G/A snv 0.98 0.91 0.010 1.000 1 2014 2014
dbSNP: rs581111
rs581111
1 1.000 0.080 1 28848861 intron variant A/G snv 0.63 0.010 1.000 1 2014 2014
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2014 2014
dbSNP: rs767749
rs767749
1 1.000 0.080 16 9754614 3 prime UTR variant T/G snv 0.81 0.010 1.000 1 2014 2014