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: rs386833731
rs386833731
CLN3
1 1.000 0.120 16 28486459 missense variant C/A;G snv 4.0E-06 0.800 1.000 4 1997 2012