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: rs886037888
rs886037888
1 1.000 17 41930838 splice donor variant G/C;T snv 0.700 0
dbSNP: rs886037889
rs886037889
1 1.000 17 41936500 frameshift variant -/T ins 0.700 0