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: rs445
rs445
9 7 92779056 intron variant C/T snv 0.14 0.800 1.000 7 2010 2019
dbSNP: rs2814778
rs2814778
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.800 1.000 5 2012 2019
dbSNP: rs2524079
rs2524079
6 6 31274397 intron variant G/A snv 0.44 0.800 1.000 4 2011 2019
dbSNP: rs4794822
rs4794822
3 17 40000459 downstream gene variant C/G;T snv 0.800 1.000 4 2011 2019
dbSNP: rs12075
rs12075
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.800 1.000 3 2011 2019
dbSNP: rs2340727
rs2340727
2 1 161976937 intergenic variant A/G snv 0.33 0.800 1.000 3 2011 2019
dbSNP: rs2518564
rs2518564
1 1 159092646 intron variant G/A snv 0.60 0.800 1.000 3 2011 2019
dbSNP: rs4657616
rs4657616
2 1 159001296 intron variant A/G snv 0.31 0.800 1.000 3 2011 2019
dbSNP: rs8078723
rs8078723
3 1.000 0.080 17 40010626 upstream gene variant T/C snv 0.36 0.800 1.000 3 2011 2019
dbSNP: rs11264422
rs11264422
1 1 155938032 upstream gene variant T/A snv 0.48 0.800 1.000 2 2011 2019
dbSNP: rs1962508
rs1962508
1 1 161975629 intergenic variant C/A snv 0.45 0.800 1.000 2 2011 2019
dbSNP: rs385893
rs385893
9 0.925 0.080 9 4763176 downstream gene variant T/C snv 0.44 0.800 1.000 2 2009 2019
dbSNP: rs3859192
rs3859192
3 0.925 0.080 17 39972395 intron variant C/T snv 0.42 0.800 1.000 2 2012 2019
dbSNP: rs9402686
rs9402686
5 6 135106679 upstream gene variant G/A snv 0.20 0.800 1.000 2 2009 2014
dbSNP: rs1371799
rs1371799
1 4 74112120 upstream gene variant T/C snv 0.49 0.800 1.000 1 2011 2011
dbSNP: rs16993221
rs16993221
1 21 35477121 intron variant A/T snv 2.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs17609240
rs17609240
1 17 39954436 intron variant T/A;G snv 0.800 1.000 1 2009 2009
dbSNP: rs2227139
rs2227139
4 0.925 0.160 6 32445682 downstream gene variant G/A snv 0.61 0.800 1.000 1 2009 2009
dbSNP: rs2517510
rs2517510
1 6 31062345 downstream gene variant T/G snv 0.45 0.800 1.000 1 2011 2011
dbSNP: rs7600502
rs7600502
1 2 22074131 intron variant A/G snv 1.4E-02 0.800 1.000 1 2013 2013
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 4 2016 2019
dbSNP: rs3747869
rs3747869
1 10 71760875 missense variant A/C snv 0.88 0.90 0.700 1.000 3 2016 2019
dbSNP: rs3917932
rs3917932
5 1 36478315 intron variant C/G snv 0.59 0.700 1.000 3 2016 2019
dbSNP: rs4065321
rs4065321
2 17 39987295 intron variant C/T snv 0.56 0.700 1.000 3 2010 2019
dbSNP: rs56388170
rs56388170
5 7 28684757 intron variant G/T snv 0.37 0.700 1.000 3 2016 2019