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: rs2286455
rs2286455
2 1.000 0.080 4 16018539 splice region variant C/T snv 0.14 9.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs3130
rs3130
6 0.882 0.080 4 15968315 3 prime UTR variant T/A;C snv 0.010 < 0.001 1 2015 2015