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: rs12529874
rs12529874
2 6 98014625 intron variant G/A snv 2.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs12423247
rs12423247
1 12 96464584 intron variant A/T snv 9.2E-02 0.800 1.000 1 2012 2012
dbSNP: rs6671200
rs6671200
2 1 95231973 intron variant A/C snv 0.90 0.700 1.000 1 2013 2013
dbSNP: rs9437689
rs9437689
1 1 95083980 regulatory region variant C/T snv 0.34 0.800 1.000 1 2012 2012
dbSNP: rs6675668
rs6675668
2 1 95050081 intron variant T/G snv 0.43 0.700 1.000 1 2013 2013
dbSNP: rs2391388
rs2391388
2 1 95020269 intron variant A/C snv 0.49 0.700 1.000 1 2013 2013
dbSNP: rs860873
rs860873
2 1 94921652 intron variant G/A snv 0.39 0.700 1.000 1 2013 2013
dbSNP: rs17148090
rs17148090
1 11 85306432 intron variant A/C;G snv 7.4E-02 0.800 1.000 1 2012 2012
dbSNP: rs12098564
rs12098564
2 10 85193571 non coding transcript exon variant A/G snv 7.4E-02 0.700 1.000 1 2013 2013
dbSNP: rs116843064
rs116843064
16 0.776 0.160 19 8364439 missense variant G/A snv 1.3E-02 1.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs17718828
rs17718828
1 13 74553977 non coding transcript exon variant C/T snv 8.8E-02 0.800 1.000 1 2012 2012
dbSNP: rs9924951
rs9924951
2 16 7454852 intron variant G/A snv 0.39 0.700 1.000 1 2008 2008
dbSNP: rs10769780
rs10769780
1 11 7345864 intron variant T/C snv 0.25 0.800 1.000 1 2012 2012
dbSNP: rs11120822
rs11120822
2 1 7053052 intron variant G/C snv 0.34 0.700 1.000 1 2013 2013
dbSNP: rs2366017
rs2366017
2 17 69854760 intron variant G/A snv 2.1E-02 0.700 1.000 1 2013 2013
dbSNP: rs2585617
rs2585617
1 6 68627895 non coding transcript exon variant A/G snv 0.90 0.700 1.000 1 2011 2011
dbSNP: rs1077989
rs1077989
3 1.000 0.080 14 67509105 intron variant A/C snv 0.39 0.800 1.000 1 2012 2012
dbSNP: rs4963452
rs4963452
2 11 62048331 downstream gene variant T/C snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs11230874
rs11230874
1 11 62028114 intergenic variant T/G snv 6.9E-02 0.700 1.000 1 2011 2011
dbSNP: rs10897208
rs10897208
1 11 62024415 intergenic variant A/T snv 0.11 0.700 1.000 1 2011 2011
dbSNP: rs4963444
rs4963444
1 11 62005870 regulatory region variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10792320
rs10792320
1 11 61978819 intergenic variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2028062
rs2028062
1 11 61978481 intergenic variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs3758977
rs3758977
1 11 61969772 upstream gene variant T/A;G snv 0.700 1.000 1 2011 2011
dbSNP: rs1800009
rs1800009
1 11 61962762 synonymous variant T/C snv 0.46 0.43 0.700 1.000 1 2011 2011