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: rs386833729
rs386833729
CLN3
1 1.000 0.120 16 28486465 frameshift variant CT/- del 0.700 1.000 1 1997 1997