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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.040 1.000 4 2010 2015
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.030 1.000 3 2010 2015
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.020 1.000 2 2005 2013
dbSNP: rs135745
rs135745
13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2008 2008
dbSNP: rs16147
rs16147
18 0.695 0.400 7 24283791 upstream gene variant T/C snv 0.48 0.010 1.000 1 2009 2009
dbSNP: rs1630250
rs1630250
1 1.000 0.080 1 231528457 5 prime UTR variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs3213207
rs3213207
11 0.776 0.120 6 15627871 intron variant T/C snv 8.7E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs6662926
rs6662926
1 1.000 0.080 1 231567179 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs7687423
rs7687423
3 0.925 0.080 4 163329645 intron variant A/G snv 0.53 0.010 1.000 1 2009 2009