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: rs9323124
rs9323124
2 0.925 0.040 14 46996974 non coding transcript exon variant T/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs141366047
rs141366047
3 0.882 0.120 6 161785829 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 9.6E-05 0.010 1.000 1 2005 2005
dbSNP: rs34410987
rs34410987
3 0.882 0.040 12 40283897 missense variant C/T snv 7.4E-04 2.2E-04 0.010 1.000 1 2008 2008
dbSNP: rs356182
rs356182
3 0.882 0.080 4 89704960 intron variant G/A snv 0.65 0.010 1.000 1 2016 2016
dbSNP: rs6812193
rs6812193
3 0.882 0.080 4 76277833 intron variant C/T snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs752169833
rs752169833
3 0.925 0.040 7 56102878 missense variant C/A;T snv 8.0E-06; 5.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs947211
rs947211
3 0.925 0.040 1 205783537 non coding transcript exon variant A/G snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs1414323823
rs1414323823
4 0.851 0.160 15 74722772 frameshift variant -/TCTCGGT ins 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1801334
rs1801334
4 0.851 0.040 6 161360193 missense variant C/T snv 2.5E-02 2.5E-02 0.010 1.000 1 2005 2005
dbSNP: rs1801474
rs1801474
4 0.851 0.080 6 162201165 missense variant C/T snv 7.1E-02 5.3E-02 0.010 1.000 1 1999 1999
dbSNP: rs2736990
rs2736990
4 0.882 0.080 4 89757390 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs41549716
rs41549716
4 0.882 0.200 15 89321842 missense variant T/C snv 6.6E-03 7.0E-03 0.010 1.000 1 2007 2007
dbSNP: rs9652490
rs9652490
4 0.851 0.080 15 77671545 intron variant A/G snv 0.28 0.010 1.000 1 2010 2010
dbSNP: rs3836790
rs3836790
5 0.882 0.080 5 1411740 intron variant -/ACATACACACTCAGACACACATACCATGCA ins 0.010 1.000 1 2016 2016
dbSNP: rs4866
rs4866
5 0.827 0.240 7 2249951 missense variant G/A snv 2.2E-02 1.8E-02 0.010 < 0.001 1 2000 2000
dbSNP: rs763222239
rs763222239
5 0.827 0.040 3 184322862 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs142444896
rs142444896
6 0.807 0.120 7 56106409 missense variant G/A snv 9.3E-03 7.5E-03 0.020 1.000 2 2015 2016
dbSNP: rs121917767
rs121917767
6 0.827 0.120 4 41260751 missense variant C/A;G;T snv 4.0E-05; 4.0E-06; 2.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs3129882
rs3129882
6 0.807 0.240 6 32441753 intron variant G/A snv 0.56 0.010 1.000 1 2011 2011
dbSNP: rs112176450
rs112176450
7 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 0.010 < 0.001 1 2013 2013
dbSNP: rs11931074
rs11931074
7 0.851 0.080 4 89718364 intron variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs28363170
rs28363170
7 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs34995376
rs34995376
7 0.807 0.080 12 40310435 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs34015634
rs34015634
8 0.851 0.120 12 40340380 missense variant T/C snv 3.2E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs33949390
rs33949390
9 0.776 0.160 12 40320043 missense variant G/A;C;T snv 1.6E-04; 1.9E-03; 8.0E-06 0.030 1.000 3 2008 2015