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: rs63750393
rs63750393
4 0.925 0.160 2 47471007 frameshift variant GA/-;GAGA delins 0.700 1.000 10 2002 2013