Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752164603
rs752164603
TPP1
A 0.700 CausalMutation CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs752164603
rs752164603
TPP1
A 0.700 CausalMutation CLINVAR Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses. 22245569

2012