rs587780315, FBXL3;CLN5

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 1.000 0.120 13 76996086 frameshift variant G/- delins 0.700 1.000 2 2010 2013
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 0.120 13 76996086 frameshift variant G/- delins 0.700 1.000 1 2010 2010