rs386833695, CLN3

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Juvenile Neuronal Ceroid Lipofuscinosis
73 0.925 0.120 16 28482160 missense variant C/T snv 2.4E-05 2.1E-05 0.800 1.000 10 1997 2013
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
74 0.925 0.120 16 28482160 missense variant C/T snv 2.4E-05 2.1E-05 0.700 1.000 6 1997 2013