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: rs6265
rs6265
171 0.463 0.679 11 27658369 missense variant C/T snp 0.19 0.15 0.100 0.923 39 2004 2018
dbSNP: rs759834365
rs759834365
157 0.471 0.679 11 27658456 missense variant C/T snp 1.2E-05 0.100 0.909 33 2004 2018
dbSNP: rs4680
rs4680
155 0.484 0.821 22 19963748 missense variant G/A snp 0.46 0.45 0.100 1.000 10 2005 2016
dbSNP: rs1006737
rs1006737
31 0.679 0.107 12 2236129 intron variant G/A snp 0.37 0.080 1.000 8 2010 2015
dbSNP: rs2522833
rs2522833
6 0.821 0.071 7 82824392 missense variant A/C snp 0.45 0.35 0.080 1.000 8 2011 2018
dbSNP: rs6313
rs6313
50 0.590 0.500 13 46895805 synonymous variant G/A snp 0.41 0.39 0.080 1.000 8 2004 2015
dbSNP: rs5569
rs5569
11 0.801 0.143 16 55697923 synonymous variant G/A,C snp 0.31; 4.0E-06 0.27 0.060 1.000 6 2002 2016
dbSNP: rs1360780
rs1360780
16 0.769 0.107 6 35639794 intron variant T/A,C snp 0.69 0.050 1.000 5 2011 2016
dbSNP: rs5443
rs5443
65 0.570 0.571 12 6845711 synonymous variant C/T snp 0.36 0.43 0.050 0.800 5 2004 2016
dbSNP: rs1049353
rs1049353
26 0.657 0.464 6 88143916 synonymous variant C/T snp 0.21 0.20 0.040 1.000 4 2009 2013
dbSNP: rs25531
rs25531
39 0.626 0.321 17 30237328 intergenic variant T/C snp 0.040 1.000 4 2010 2015
dbSNP: rs1045642
rs1045642
108 0.520 0.714 7 87509329 synonymous variant A/G,T snp 0.50 0.56 0.030 0.667 3 2003 2012
dbSNP: rs2230912
rs2230912
10 0.769 0.143 12 121184393 missense variant A/G snp 0.13 0.12 0.030 0.667 3 2006 2010
dbSNP: rs7124442
rs7124442
8 0.801 0.071 11 27655494 3 prime UTR variant C/G,T snp 3.2E-05; 0.66; 9.3E-04 0.030 0.667 3 2010 2014
dbSNP: rs110402
rs110402
9 0.821 0.107 17 45802681 intron variant G/A,C snp 0.47; 3.2E-05 0.020 1.000 2 2012 2012
dbSNP: rs1137070
rs1137070
2 0.923 0.071 X 43744144 synonymous variant T/C snp 0.62 0.65 0.020 1.000 2 2010 2011
dbSNP: rs120074175
rs120074175
4 0.846 0.071 12 72031544 missense variant G/A snp 1.2E-05 0.020 1.000 2 2008 2016
dbSNP: rs12520799
rs12520799
1 1.000 0.036 5 135446760 stop gained T/A,C snp 0.51 0.56 0.020 0.500 2 2011 2014
dbSNP: rs16139
rs16139
27 0.657 0.500 7 24285260 missense variant T/A,C snp 4.0E-06; 3.0E-02 3.2E-02 0.020 1.000 2 2011 2013
dbSNP: rs17110747
rs17110747
1 1.000 0.036 12 72032174 3 prime UTR variant G/A snp 0.12 0.020 1.000 2 2009 2012
dbSNP: rs1800532
rs1800532
6 0.821 0.071 11 18026269 intron variant G/T snp 0.34 0.020 1.000 2 2011 2012
dbSNP: rs2242446
rs2242446
5 0.821 0.071 16 55656513 5 prime UTR variant C/A,T snp 0.74 0.020 1.000 2 2009 2013
dbSNP: rs242939
rs242939
2 0.923 0.036 17 45818213 intron variant C/T snp 0.87 0.020 1.000 2 2012 2013
dbSNP: rs2619522
rs2619522
5 0.846 0.071 6 15653418 intron variant A/C snp 0.25 0.020 1.000 2 2008 2011
dbSNP: rs3738401
rs3738401
3 0.923 0.036 1 231694549 missense variant G/A snp 0.30 0.26 0.020 1.000 2 2014 2015