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: rs797046101
rs797046101
5 0.851 0.280 X 49076469 stop gained G/A snv 0.010 1.000 1 2015 2015