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: rs875989799
rs875989799
1 1.000 0.080 X 53248814 missense variant G/A snv 0.800 1.000 2 2010 2015