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: rs10483639
rs10483639
3 1.000 0.040 14 54839739 downstream gene variant G/C snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs12584920
rs12584920
1 1.000 0.040 13 46890902 intron variant G/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs13361160
rs13361160
2 1.000 0.040 5 10169711 downstream gene variant T/C snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs1777971
rs1777971
1 1.000 0.040 6 58143645 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2009 2009
dbSNP: rs3783641
rs3783641
4 0.882 0.120 14 54893421 intron variant T/A;C snv 0.25 0.010 1.000 1 2009 2009
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2012 2012
dbSNP: rs563649
rs563649
2 1.000 0.040 6 154086832 5 prime UTR variant C/T snv 9.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2009 2009
dbSNP: rs6476030
rs6476030
1 1.000 0.040 9 289061 intron variant A/G snv 7.1E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs6746030
rs6746030
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.010 1.000 1 2012 2012
dbSNP: rs8007267
rs8007267
6 0.882 0.200 14 54912273 intergenic variant C/T snv 0.31 0.010 1.000 1 2009 2009