rs386833981, FBXL3;CLN5

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, 5
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
58 0.925 0.120 13 77000517 missense variant T/G snv 0.800 1.000 10 1998 2015
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.925 0.120 13 77000517 missense variant T/G snv 0.010 1.000 1 2007 2007
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.925 0.120 13 77000517 missense variant T/G snv 0.010 1.000 1 2007 2007