Source: ALL
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: rs12289961
rs12289961
1 11 58292720 non coding transcript exon variant C/T snp 0.29 0.800 1 2013 2013
dbSNP: rs2621416
rs2621416
3 0.923 0.179 6 32774091 intergenic variant T/C snp 0.27 0.800 1 2013 2013
dbSNP: rs2647045
rs2647045
1 6 32700323 intergenic variant G/A snp 0.26 0.800 1 2013 2013
dbSNP: rs4530903
rs4530903
1 6 32614112 intergenic variant C/T snp 0.10 0.800 1 2013 2013
dbSNP: rs6773854
rs6773854
2 1.000 0.107 3 187931631 regulatory region variant T/C snp 0.23 0.800 1 2013 2013
dbSNP: rs707824
rs707824
1 6 14636732 intergenic variant T/C snp 0.76 0.800 1 2013 2013
dbSNP: rs9268853
rs9268853
9 0.801 0.250 6 32461866 intron variant T/C snp 0.27 0.800 1 2013 2013
dbSNP: rs948562
rs948562
1 11 58580292 intron variant A/G snp 0.16 0.800 1 2013 2013
dbSNP: rs267601394
rs267601394
5 0.878 0.179 7 148811635 missense variant T/A,G snp 0.710 1.000 3 2013 2014
dbSNP: rs1057519833
rs1057519833
1 7 148809375 missense variant G/C snp 0.700 1 2013 2013
dbSNP: rs267601395
rs267601395
3 0.923 0.143 7 148811636 missense variant A/G,T snp 0.700 1 2013 2013
dbSNP: rs273429
rs273429
1 8 131467654 intergenic variant C/T snp 0.44 0.700 1 2013 2013
dbSNP: rs387907272
rs387907272
34 0.630 0.286 3 38141150 stop lost T/C snp 5.2E-05 0.060 1.000 6 2013 2017
dbSNP: rs2230926
rs2230926
11 0.756 0.286 6 137874929 missense variant T/C,G snp 4.0E-06; 5.4E-02 0.12 0.020 1.000 2 2014 2016
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.020 1.000 2 2005 2016
dbSNP: rs10494879
rs10494879
1 1 206778859 intergenic variant C/G snp 0.36 0.010 1.000 1 2008 2008
dbSNP: rs113193886
rs113193886
38 0.608 0.464 7 143267671 missense variant A/T snp 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs11466782
rs11466782
1 5 157494947 intron variant A/G snp 0.11 0.010 1.000 1 2011 2011
dbSNP: rs11540652
rs11540652
40 0.618 0.464 17 7674220 missense variant C/A,G,T snp 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs11540654
rs11540654
117 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs11547328
rs11547328
21 0.715 0.357 12 57751648 missense variant G/A,T snp 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121912664
rs121912664
31 0.667 0.357 17 7670699 missense variant C/A,G,T snp 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs121913105
rs121913105
16 0.724 0.179 4 1806163 missense variant A/C,T snp 0.010 1.000 1 2007 2007
dbSNP: rs121913237
rs121913237
37 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.010 1.000 1 2011 2011