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: rs61749721
rs61749721
17 0.732 0.200 X 154031065 stop gained G/A snv 0.020 1.000 2 2010 2015