Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912789
rs121912789
CTSD
0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs121912789
rs121912789
CTSD
0.800 GeneticVariation UNIPROT Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. 16670177

2006
dbSNP: rs121912789
rs121912789
CTSD
0.800 GeneticVariation UNIPROT Cathepsin D deficiency is associated with a human neurodegenerative disorder. 16685649

2006
dbSNP: rs121912789
rs121912789
CTSD
T 0.800 CausalMutation CLINVAR