rs267606737, 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.
CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
4 0.882 0.120 16 28486427 stop gained G/T snv 4.0E-06 0.700 0
Juvenile Neuronal Ceroid Lipofuscinosis
73 0.882 0.120 16 28486427 stop gained G/T snv 4.0E-06 0.700 1.000 3 2009 2012
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
74 0.882 0.120 16 28486427 stop gained G/T snv 4.0E-06 0.710 1.000 1 2009 2009