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: rs12387999
rs12387999
1 1.000 0.040 X 48035670 intron variant G/A snv 5.0E-02 0.700 1.000 1 2011 2011