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: rs146579248
rs146579248
1 1.000 0.080 5 128046610 intron variant C/T snv 2.1E-02 0.800 1.000 1 2014 2014