rs386833694, 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 28482161 missense variant G/A;T snv 4.0E-06 0.800 1.000 8 1997 2012
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
74 0.925 0.120 16 28482161 missense variant G/A;T snv 4.0E-06 0.700 1.000 6 1997 2009