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: rs17758761
rs17758761
2 1.000 0.080 17 55977164 intron variant A/C snv 4.1E-02 0.010 < 0.001 1 2012 2012