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: rs1554898238
rs1554898238
1 1.000 0.080 10 87933249 splice donor variant GTAAG/- delins 0.700 1.000 2 1998 2011