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: rs717620
rs717620
10 0.763 0.240 10 99782821 5 prime UTR variant C/T snv 0.17 0.15 0.030 1.000 3 2012 2017
dbSNP: rs3740066
rs3740066
20 0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 0.010 1.000 1 2011 2011
dbSNP: rs8187710
rs8187710
6 0.827 0.200 10 99851537 missense variant G/A snv 5.3E-02 8.5E-02 0.010 1.000 1 2016 2016