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: rs200541723
rs200541723
1 1.000 0.080 1 119149533 intron variant GAAGAA/-;GAA delins 0.700 1.000 1 2017 2017