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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.040 1.000 4 2008 2011
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.010 1.000 1 2006 2006
dbSNP: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.010 1.000 1 1996 1996
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2010 2010
dbSNP: rs3800373
rs3800373
22 0.752 0.200 6 35574699 3 prime UTR variant C/A snv 0.68 0.010 1.000 1 2006 2006
dbSNP: rs3916966
rs3916966
4 0.882 0.080 13 105458546 upstream gene variant C/A snv 0.63 0.010 1.000 1 2010 2010
dbSNP: rs4713916
rs4713916
11 0.790 0.160 6 35702206 intron variant A/C;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2012 2012
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs9558575
rs9558575
1 13 105494311 intron variant T/G snv 0.33 0.010 1.000 1 2010 2010