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: rs2306969
rs2306969
4 0.925 0.040 19 5851790 intron variant A/G snv 0.76 0.010 1.000 1 2019 2019
dbSNP: rs3732253
rs3732253
1 1.000 2 70448966 3 prime UTR variant G/A snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2008 2008