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: rs12137855
rs12137855
3 0.878 0.036 1 219275036 intergenic variant C/T snp 0.20 0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.010 1.000 1 2013 2013
dbSNP: rs1260326
rs1260326
63 0.667 0.321 2 27508073 missense variant T/C snp 0.63; 4.0E-06 0.67 0.010 1.000 1 2012 2012
dbSNP: rs2287622
rs2287622
16 0.707 0.179 2 168973818 missense variant A/C,G,T snp 0.57 0.57 0.010 < 0.001 1 2011 2011
dbSNP: rs4148325
rs4148325
7 0.821 0.107 2 233764663 intron variant C/T snp 0.36 0.010 1.000 1 2016 2016
dbSNP: rs780094
rs780094
44 0.699 0.286 2 27518370 intron variant T/C snp 0.67 0.010 1.000 1 2014 2014
dbSNP: rs1801282
rs1801282
77 0.543 0.679 3 12351626 missense variant C/G snp 0.11 1.0E-01 0.010 1.000 1 2011 2011
dbSNP: rs1805192
rs1805192
75 0.545 0.679 3 12379739 missense variant C/G snp 0.010 1.000 1 2011 2011
dbSNP: rs7643645
rs7643645
4 0.846 0.107 3 119806650 intron variant A/G snp 0.31 0.010 1.000 1 2010 2010
dbSNP: rs1042714
rs1042714
38 0.634 0.464 5 148826910 stop gained G/C,T snp 0.68 0.67 0.010 1.000 1 2003 2003
dbSNP: rs61750420
rs61750420
11 0.756 0.357 7 92501562 missense variant C/T snp 3.2E-04 2.5E-04 0.010 1.000 1 2014 2014
dbSNP: rs4240624
rs4240624
5 0.846 0.107 8 9326721 intron variant G/A snp 0.87 0.010 1.000 1 2014 2014
dbSNP: rs12784396
rs12784396
2 0.923 0.036 10 100267650 5 prime UTR variant C/A,T snp 0.30 0.010 1.000 1 2013 2013
dbSNP: rs2862954
rs2862954
2 0.923 0.036 10 100152307 missense variant T/C snp 0.34 0.33 0.010 1.000 1 2013 2013
dbSNP: rs2854116
rs2854116
5 0.846 0.071 11 116829453 regulatory region variant C/T snp 0.52 0.010 1.000 1 2012 2012
dbSNP: rs1800588
rs1800588
9 0.821 0.071 15 58431476 intron variant C/G,T snp 0.30 0.32 0.010 1.000 1 2015 2015
dbSNP: rs58542926
rs58542926
20 0.707 0.250 19 19268740 missense variant C/T snp 6.5E-02 5.8E-02 0.050 1.000 5 2015 2016
dbSNP: rs12979860
rs12979860
47 0.608 0.500 19 39248147 intron variant C/T snp 0.38 0.020 0.500 2 2012 2015
dbSNP: rs8099917
rs8099917
38 0.618 0.464 19 39252525 intergenic variant T/G snp 0.15 0.020 1.000 2 2013 2014
dbSNP: rs12980275
rs12980275
11 0.769 0.143 19 39241143 intergenic variant A/G snp 0.35 0.010 1.000 1 2013 2013
dbSNP: rs2228603
rs2228603
11 0.784 0.286 19 19219115 missense variant C/A,T snp 2.8E-05; 5.9E-02 3.2E-05; 5.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs738409
rs738409
55 0.590 0.536 22 43928847 missense variant C/G snp 0.28 0.22 0.100 0.968 31 2010 2018
dbSNP: rs3213445
rs3213445
3 0.878 0.071 22 50577409 missense variant T/C snp 0.12 9.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs74315468
rs74315468
9 0.756 0.143 22 50626841 missense variant G/A snp 4.0E-06 6.4E-05 0.010 1.000 1 2013 2013