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: rs7765379
rs7765379
5 0.827 0.280 6 32713151 upstream gene variant T/G snv 0.10 0.710 1.000 1 2014 2014
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2011 2013
dbSNP: rs1040079
rs1040079
3 0.882 0.040 6 162792995 intron variant A/G snv 0.31 0.010 < 0.001 1 2006 2006
dbSNP: rs1333955
rs1333955
4 0.851 0.080 6 162792422 intron variant T/A;C snv 0.010 < 0.001 1 2006 2006
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2011 2011