rs121434286, CLN3

N. diseases: 3
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 0.882 0.120 16 28482500 stop gained C/A;T snv 2.4E-05 0.820 1.000 6 1997 2015
CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
4 0.882 0.120 16 28482500 stop gained C/A;T snv 2.4E-05 0.700 0
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
74 0.882 0.120 16 28482500 stop gained C/A;T snv 2.4E-05 0.700 0