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: rs201439531
rs201439531
11 0.821 0.143 10 49664880 missense variant C/G snp 0.700 1 2015 2015
dbSNP: rs3812718
rs3812718
4 0.846 0.143 2 166053034 splice region variant C/T snp 0.49 0.020 1.000 2 2009 2010
dbSNP: rs11105468
rs11105468
1 1.000 0.071 12 89935056 intron variant T/A snp 0.26 0.010 1.000 1 2015 2015
dbSNP: rs114444506
rs114444506
1 1.000 0.071 11 26325284 intron variant T/C snp 1.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs121909673
rs121909673
6 0.801 0.071 5 162093965 missense variant G/A snp 0.010 1.000 1 2012 2012
dbSNP: rs121918631
rs121918631
3 0.878 0.071 2 166056450 stop gained A/G,T snp 0.010 1.000 1 2006 2006
dbSNP: rs1318653
rs1318653
1 1.000 0.071 1 207841577 intron variant T/C snp 0.19 0.010 1.000 1 2015 2015
dbSNP: rs142740233
rs142740233
3 0.923 0.071 20 46056217 missense variant G/A,T snp 3.3E-03; 4.0E-06 1.0E-03 0.010 1.000 1 2015 2015
dbSNP: rs146572471
rs146572471
1 1.000 0.071 2 27256512 missense variant G/A,C snp 5.8E-04; 4.0E-06 2.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs16850331
rs16850331
2 0.923 0.071 2 165292743 intron variant C/T snp 0.24 0.010 1.000 1 2010 2010
dbSNP: rs211037
rs211037
6 0.801 0.179 5 162101274 synonymous variant C/T snp 0.28 0.33 0.010 < 0.001 1 2014 2014
dbSNP: rs273259
rs273259
1 1.000 0.071 1 78628133 missense variant A/G snp 0.38 0.38 0.010 1.000 1 2015 2015
dbSNP: rs373363000
rs373363000
3 0.878 0.071 5 161686327 missense variant C/A,T snp 4.0E-06; 3.3E-04 2.9E-04 0.010 1.000 1 2012 2012
dbSNP: rs3769955
rs3769955
1 1.000 0.071 2 165378122 intron variant C/T snp 0.42 0.010 1.000 1 2015 2015
dbSNP: rs3943809
rs3943809
2 0.923 0.071 2 165344371 intron variant A/G snp 0.22 0.010 1.000 1 2010 2010
dbSNP: rs556893466
rs556893466
1 1.000 0.071 2 165991477 missense variant C/A,T snp 2.0E-05; 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs61738009
rs61738009
4 0.846 0.071 8 67483807 missense variant C/T snp 4.0E-06; 2.0E-03 2.4E-03 0.010 1.000 1 2012 2012
dbSNP: rs6432860
rs6432860
3 1.000 0.071 2 166041354 missense variant A/G,T snp 0.73; 4.0E-06 0.75 0.010 1.000 1 2015 2015
dbSNP: rs7587026
rs7587026
3 0.878 0.071 2 166122240 intron variant C/A snp 0.26 0.010 < 0.001 1 2013 2013
dbSNP: rs770780950
rs770780950
3 0.878 0.071 3 89210112 stop gained C/T snp 4.0E-06 3.2E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs774919320
rs774919320
1 1.000 0.071 2 165992401 missense variant A/G snp 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs796052504
rs796052504
3 0.878 0.071 5 162097716 stop gained C/T snp 3.2E-05 0.010 < 0.001 1 2014 2014