rs546989392, CLN5;FBXL3

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.
CEROID LIPOFUSCINOSIS, NEURONAL, 5
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
58 0.925 0.120 13 76996010 stop gained C/T snv 2.0E-05 7.7E-05 0.700 1.000 1 2013 2013
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
74 0.925 0.120 13 76996010 stop gained C/T snv 2.0E-05 7.7E-05 0.700 1.000 1 2013 2013