Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs56144125
rs56144125
T 0.700 CausalMutation CLINVAR Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients. 22832778

2013

dbSNP: rs56144125
rs56144125
G 0.700 CausalMutation CLINVAR Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. 12376936

2002

dbSNP: rs56144125
rs56144125
T 0.700 CausalMutation CLINVAR Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene. 10356316

1999

dbSNP: rs56144125
rs56144125
G 0.700 CausalMutation CLINVAR Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 10330339

1999

dbSNP: rs56144125
rs56144125
T 0.700 CausalMutation CLINVAR Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 10330339

1999

dbSNP: rs56144125
rs56144125
G 0.700 CausalMutation CLINVAR Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis. 9788728

1998

dbSNP: rs56144125
rs56144125
G 0.700 CausalMutation CLINVAR Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. 9295267

1997