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: rs2066844
rs2066844
32 0.638 0.500 16 50712015 missense variant C/T snp 2.6E-02 2.4E-02 1.000 0.894 50 2002 2017
dbSNP: rs2066845
rs2066845
28 0.662 0.429 16 50722629 missense variant G/C,T snp 1.1E-02; 2.2E-04 7.8E-03; 3.2E-05 1.000 0.933 49 2002 2017
dbSNP: rs2241880
rs2241880
24 0.662 0.393 2 233274722 missense variant A/G snp 0.45 0.43 0.900 0.917 40 2007 2016
dbSNP: rs11209026
rs11209026
24 0.673 0.321 1 67240275 missense variant G/A snp 4.2E-02 4.5E-02 0.900 0.875 31 2006 2016
dbSNP: rs2066847
rs2066847
12 0.744 0.250 16 50729867 frameshift variant G/GC in-del 0.880 0.875 12 2006 2016
dbSNP: rs2542151
rs2542151
12 0.734 0.286 18 12779948 intergenic variant G/T snp 0.83 0.870 1.000 10 2007 2014
dbSNP: rs7517847
rs7517847
14 0.734 0.464 1 67215986 intron variant T/G snp 0.37 0.870 1.000 10 2008 2017
dbSNP: rs2476601
rs2476601
76 0.547 0.750 1 113834946 missense variant A/G snp 0.93 0.92 0.850 0.600 9 2005 2017
dbSNP: rs10758669
rs10758669
8 0.784 0.214 9 4981602 intergenic variant C/A,T snp 0.70 0.840 1.000 7 2008 2017
dbSNP: rs1893217
rs1893217
8 0.801 0.214 18 12809341 intron variant A/G snp 0.13 0.840 1.000 7 2008 2016
dbSNP: rs13361189
rs13361189
6 0.846 0.071 5 150843825 intergenic variant T/C snp 0.20 0.840 1.000 6 2007 2016
dbSNP: rs1000113
rs1000113
2 0.923 0.036 5 150860514 intron variant C/T snp 0.13 0.840 1.000 5 2007 2016
dbSNP: rs744166
rs744166
10 0.756 0.179 17 42362183 intron variant A/G snp 0.48 0.840 1.000 5 2008 2015
dbSNP: rs76418789
rs76418789
3 0.878 0.071 1 67182913 missense variant G/A snp 7.3E-03 7.5E-03 0.840 1.000 5 2012 2016
dbSNP: rs5743293
rs5743293
7 0.801 0.179 16 50729867 frameshift variant in-del 0.830 1.000 8 2006 2017
dbSNP: rs3024505
rs3024505
8 0.784 0.250 1 206766559 regulatory region variant G/A snp 0.11 0.830 1.000 6 2008 2017
dbSNP: rs10883365
rs10883365
2 0.923 0.036 10 99528007 non coding transcript exon variant G/A snp 0.53 0.830 1.000 5 2007 2015
dbSNP: rs7848647
rs7848647
7 0.801 0.143 9 114806766 regulatory region variant T/C snp 0.73 0.830 1.000 5 2006 2017
dbSNP: rs7869487
rs7869487
2 0.923 0.036 9 114818634 intergenic variant C/G,T snp 0.76 0.830 1.000 5 2006 2016
dbSNP: rs4263839
rs4263839
6 0.821 0.143 9 114804160 intron variant A/G snp 0.73 0.830 0.667 4 2008 2015
dbSNP: rs2076756
rs2076756
4 0.923 0.036 16 50722970 intron variant A/G snp 0.16 0.820 1.000 8 2007 2015
dbSNP: rs3197999
rs3197999
13 0.724 0.250 3 49684099 missense variant G/A snp 0.26 0.26 0.820 1.000 7 2008 2017
dbSNP: rs6478109
rs6478109
4 0.878 0.071 9 114806486 regulatory region variant A/G snp 0.73 0.820 1.000 6 2006 2016
dbSNP: rs9271366
rs9271366
8 0.801 0.214 6 32619077 intergenic variant G/A snp 0.820 1.000 4 2011 2016
dbSNP: rs11175593
rs11175593
3 0.878 0.143 12 40208138 non coding transcript exon variant C/T snp 2.4E-02 0.820 1.000 3 2008 2013