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: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.100 0.917 12 2004 2019
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.080 0.750 8 2005 2019
dbSNP: rs200829864
rs200829864
1 9 117704494 missense variant G/A;T snv 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs5030728
rs5030728
7 0.807 0.160 9 117712004 intron variant G/A;T snv 0.23 0.010 1.000 1 2016 2016