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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.857 21 2008 2019
dbSNP: rs165774
rs165774
11 0.807 0.120 22 19965038 3 prime UTR variant G/A snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs174696
rs174696
3 0.925 0.080 22 19965653 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs174697
rs174697
5 0.851 0.080 22 19966309 intron variant A/G snv 0.88 0.010 1.000 1 2012 2012
dbSNP: rs6267
rs6267
9 0.827 0.200 22 19962740 missense variant G/A;T snv 4.8E-05; 1.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs749437638
rs749437638
14 0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs766020740
rs766020740
5 0.851 0.120 22 19963644 missense variant C/A snv 4.0E-06 0.010 1.000 1 2013 2013