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: rs297941
rs297941
1 1.000 0.036 12 49925303 non coding transcript exon variant A/G,T snp 0.53; 3.2E-05 0.700 1 2014 2014
dbSNP: rs3747767
rs3747767
1 1.000 0.036 6 79547564 intergenic variant C/A snp 8.5E-02 0.700 1 2011 2011
dbSNP: rs4401971
rs4401971
1 1.000 0.036 9 11890045 intergenic variant A/C,G,T snp 0.58 0.700 1 2016 2016
dbSNP: rs4785741
rs4785741
2 0.923 0.036 16 89939045 intergenic variant T/C snp 0.48 0.700 1 2018 2018
dbSNP: rs4988462
rs4988462
2 0.923 0.107 3 87264203 intron variant C/T snp 0.31 0.700 1 2015 2015
dbSNP: rs6265
rs6265
171 0.463 0.679 11 27658369 missense variant C/T snp 0.19 0.15 0.100 1.000 11 2006 2016
dbSNP: rs759834365
rs759834365
157 0.471 0.679 11 27658456 missense variant C/T snp 1.2E-05 0.100 1.000 11 2006 2016
dbSNP: rs4680
rs4680
155 0.484 0.821 22 19963748 missense variant G/A snp 0.46 0.45 0.070 1.000 7 1999 2016
dbSNP: rs6311
rs6311
13 0.744 0.214 13 46897343 intergenic variant C/T snp 0.40 0.040 1.000 4 2007 2016
dbSNP: rs25531
rs25531
39 0.626 0.321 17 30237328 intergenic variant T/C snp 0.030 0.333 3 2008 2014
dbSNP: rs301430
rs301430
7 0.846 0.071 9 4576680 synonymous variant T/C snp 0.36 0.39 0.030 1.000 3 2008 2009
dbSNP: rs6313
rs6313
50 0.590 0.500 13 46895805 synonymous variant G/A snp 0.41 0.39 0.030 1.000 3 2004 2016
dbSNP: rs1059004
rs1059004
4 0.923 0.036 21 33028155 3 prime UTR variant C/A snp 0.41 0.020 1.000 2 2007 2016
dbSNP: rs25532
rs25532
2 0.923 0.107 17 30237152 regulatory region variant G/A snp 6.8E-02 0.020 1.000 2 2008 2014
dbSNP: rs28914832
rs28914832
2 0.923 0.107 17 30211356 missense variant T/C,G snp 7.4E-04 6.1E-04 0.020 1.000 2 2011 2014
dbSNP: rs301434
rs301434
2 1.000 0.036 9 4582082 intron variant C/G,T snp 0.53 0.020 1.000 2 2006 2009
dbSNP: rs301443
rs301443
1 1.000 0.036 9 4594919 intron variant C/G snp 0.71 0.020 0.500 2 2011 2013
dbSNP: rs762178
rs762178
2 0.923 0.036 21 33027093 synonymous variant A/G snp 0.51 0.53 0.020 1.000 2 2007 2016
dbSNP: rs9653711
rs9653711
2 0.923 0.036 21 33029641 intron variant G/A,C snp 3.2E-05; 0.41 0.020 1.000 2 2007 2016
dbSNP: rs1000592
rs1000592
1 1.000 0.036 2 118939624 intergenic variant C/A snp 6.2E-03 0.010 1.000 1 2014 2014
dbSNP: rs1000952
rs1000952
1 1.000 0.036 3 184038034 missense variant G/A,C,T snp 0.66; 3.6E-05; 4.0E-06 0.68; 3.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs10070190
rs10070190
2 0.923 0.036 5 26866262 intergenic variant G/A snp 0.59 0.010 1.000 1 2014 2014
dbSNP: rs1148374
rs1148374
1 1.000 0.036 18 28070318 intron variant T/A snp 0.32 0.010 1.000 1 2016 2016
dbSNP: rs11783752
rs11783752
2 0.923 0.036 8 20192013 intergenic variant G/A,C snp 0.68 0.010 1.000 1 2014 2014
dbSNP: rs11854486
rs11854486
1 1.000 0.036 15 50660473 intron variant T/C snp 7.2E-02 0.010 1.000 1 2012 2012