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: rs121434568
rs121434568
33 0.642 0.321 7 55191822 missense variant T/A,G snp 0.060 1.000 6 2013 2015
dbSNP: rs121434569
rs121434569
29 0.667 0.321 7 55181378 missense variant C/T snp 2.8E-05 9.6E-05 0.050 0.800 5 2008 2015
dbSNP: rs121913529
rs121913529
70 0.559 0.393 12 25245350 missense variant C/A,G,T snp 4.0E-06 0.050 0.800 5 2012 2016
dbSNP: rs759728549
rs759728549
26 0.679 0.214 17 7676223 stop lost T/C snp 8.0E-06 0.030 1.000 3 2009 2014
dbSNP: rs10146204
rs10146204
1 14 64352051 non coding transcript exon variant G/A snp 0.43 0.010 1.000 1 2014 2014
dbSNP: rs1052559
rs1052559
1 19 45351661 stop gained snp 0.010 1.000 1 2005 2005
dbSNP: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs12072037
rs12072037
4 0.878 0.071 1 39954534 intergenic variant C/A snp 6.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs121913279
rs121913279
68 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1256061
rs1256061
6 14 64236875 intron variant G/A,T snp 0.44 0.010 1.000 1 2014 2014
dbSNP: rs13181
rs13181
82 0.525 0.536 19 45351661 stop gained T/A,G snp 4.0E-06; 0.32 0.32 0.010 1.000 1 2005 2005
dbSNP: rs13459098
rs13459098
2 1.000 0.036 None NA None 0.010 1.000 1 2009 2009
dbSNP: rs16906252
rs16906252
9 0.821 0.107 10 129467281 synonymous variant C/T snp 5.5E-02 5.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs1799793
rs1799793
51 0.585 0.500 19 45364001 missense variant C/A,T snp 7.1E-06; 0.29 0.27 0.010 1.000 1 2005 2005
dbSNP: rs27328255
rs27328255
1 None NA None 0.010 1.000 1 2010 2010
dbSNP: rs30245983
rs30245983
2 1.000 0.036 None NA None 0.010 1.000 1 2009 2009
dbSNP: rs3743073
rs3743073
6 0.846 0.071 15 78617197 intron variant G/T snp 0.60 0.010 1.000 1 2013 2013
dbSNP: rs588765
rs588765
6 0.821 0.179 15 78573083 intron variant T/A,C snp 0.63 0.010 1.000 1 2013 2013
dbSNP: rs752021744
rs752021744
21 0.699 0.429 3 138759306 T/C snp 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs770327306
rs770327306
5 0.878 0.071 2 173091147 missense variant A/G snp 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs772399455
rs772399455
6 0.878 0.071 2 15942096 missense variant G/A,C snp 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs775514340
rs775514340
ICK
5 0.878 0.071 6 53041202 missense variant T/A,C snp 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs8021944
rs8021944
1 14 64212580 intron variant T/G snp 5.7E-02 0.010 1.000 1 2014 2014