rs386833698, 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.
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
74 0.925 0.120 16 28482102 splice region variant T/G snv 0.700 1.000 1 2014 2014
Juvenile Neuronal Ceroid Lipofuscinosis
73 0.925 0.120 16 28482102 splice region variant T/G snv 0.700 0