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: rs386833714
rs386833714
CLN3
1 1.000 0.120 16 28487734 missense variant A/G snv 0.800 1.000 4 1997 2012