Source: ALL
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: rs1563575654
rs1563575654
EXT1
1 1.000 0.120 8 117837107 splice donor variant CCTGC/- del 0.700 1.000 3 2000 2009