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: rs2274223
rs2274223
17 0.699 0.250 10 94306584 missense variant A/G snp 0.28 0.31 0.800 1.000 14 2010 2016
dbSNP: rs121913446
rs121913446
2 0.923 0.107 7 55174735 missense variant C/T snp 0.700 1 2015 2015
dbSNP: rs13016963
rs13016963
3 0.878 0.071 2 201298088 intron variant A/G snp 0.61 0.700 1 2015 2015
dbSNP: rs1642764
rs1642764
1 1.000 0.071 17 7654516 intron variant C/T snp 0.46 0.700 1 2015 2015
dbSNP: rs2014300
rs2014300
2 0.923 0.071 21 34985564 intron variant A/G snp 0.77 0.700 1 2015 2015
dbSNP: rs2239815
rs2239815
3 0.878 0.071 22 28796682 non coding transcript exon variant T/C snp 0.45 0.700 1 2015 2015
dbSNP: rs28931588
rs28931588
13 0.724 0.179 3 41224606 missense variant G/A,C,T snp 0.700 1 2015 2015
dbSNP: rs35597309
rs35597309
2 0.923 0.107 6 32621489 intergenic variant G/A snp 4.4E-02 0.700 1 2015 2015
dbSNP: rs61271866
rs61271866
1 1.000 0.071 9 21997016 intron variant T/A snp 0.22 0.700 1 2015 2015
dbSNP: rs7447927
rs7447927
1 1.000 0.071 5 139481561 synonymous variant C/G,T snp 0.62; 4.0E-06 0.55 0.700 1 2015 2015
dbSNP: rs1229984
rs1229984
50 0.622 0.393 4 99318162 missense variant T/C,G snp 0.90 0.94 0.040 1.000 4 2009 2013
dbSNP: rs671
rs671
61 0.593 0.464 12 111803962 missense variant G/A snp 1.9E-02 1.3E-02 0.040 1.000 4 2009 2018
dbSNP: rs1799793
rs1799793
51 0.585 0.500 19 45364001 missense variant C/A,T snp 7.1E-06; 0.29 0.27 0.030 1.000 3 2002 2014
dbSNP: rs1051740
rs1051740
29 0.647 0.429 1 225831932 missense variant T/C snp 0.32 0.28 0.020 0.500 2 2004 2008
dbSNP: rs1052133
rs1052133
77 0.533 0.643 3 9757089 missense variant C/G snp 0.27 0.22 0.020 1.000 2 2001 2014
dbSNP: rs11614913
rs11614913
49 0.585 0.607 12 53991815 mature miRNA variant C/T snp 0.39 0.35 0.020 1.000 2 2014 2017
dbSNP: rs12220909
rs12220909
2 0.923 0.107 10 14383222 mature miRNA variant G/C,T snp 4.9E-03 1.3E-02 0.020 1.000 2 2016 2017
dbSNP: rs1799782
rs1799782
84 0.523 0.607 19 43553422 stop gained G/A snp 9.5E-02 7.1E-02 0.020 1.000 2 2002 2009
dbSNP: rs2234922
rs2234922
28 0.652 0.321 1 225838705 missense variant A/G,T snp 0.19; 2.8E-05 0.23 0.020 1.000 2 2006 2008
dbSNP: rs25487
rs25487
119 0.485 0.679 19 43551574 missense variant T/C snp 0.68 0.72 0.020 < 0.001 2 2002 2009
dbSNP: rs353163
rs353163
4 0.878 0.071 4 67919056 missense variant T/A,C,G snp 0.67 0.73 0.020 0.500 2 2006 2014
dbSNP: rs401681
rs401681
22 0.679 0.464 5 1321972 intron variant C/T snp 0.48 0.020 0.500 2 2014 2015
dbSNP: rs4767364
rs4767364
9 0.821 0.143 12 112083644 intron variant G/A snp 0.45 0.020 1.000 2 2013 2018
dbSNP: rs4938723
rs4938723
26 0.657 0.357 11 111511840 intron variant T/C snp 0.33 0.020 1.000 2 2014 2015
dbSNP: rs6505162
rs6505162
17 0.734 0.214 17 30117165 5 prime UTR variant A/C,T snp 0.50; 3.1E-05 0.42; 6.4E-05 0.020 1.000 2 2014 2017