rs154774640, CLN6

N. diseases: 2
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CEROID LIPOFUSCINOSIS, NEURONAL, 6
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
0.700 GeneticVariation CLINVAR Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. 26075876 2015
CEROID LIPOFUSCINOSIS, NEURONAL, 6
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
0.700 GeneticVariation CLINVAR Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. 21549341 2011