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: rs1555619056
rs1555619056
NF1
3 0.925 0.160 17 31261858 splice donor variant G/A;C snv 0.700 0