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: rs952178
rs952178
1 1.000 0.080 4 187604743 intron variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs9612574
rs9612574
1 1.000 0.080 22 20656929 upstream gene variant G/C snv 8.6E-02 0.700 1.000 1 2010 2010
dbSNP: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.010 1.000 1 2008 2008
dbSNP: rs7251432
rs7251432
2 0.925 0.080 19 35284538 non coding transcript exon variant A/G;T snv 0.43 0.010 1.000 1 2008 2008
dbSNP: rs916145
rs916145
2 0.925 0.080 19 35276981 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 < 0.001 1 2005 2005
dbSNP: rs113624356
rs113624356
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0