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: rs1555274387
rs1555274387
CLN5 ; FBXL3
1 1.000 0.120 13 77000883 frameshift variant T/- delins 0.700 1.000 3 2002 2013