Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122959
rs398122959
TPP1
0.800 GeneticVariation UNIPROT Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). 23418007

2013
dbSNP: rs398122959
rs398122959
TPP1
C 0.800 CausalMutation CLINVAR

dbSNP: rs119455955
rs119455955
TPP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs119455957
rs119455957
TPP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs56144125
rs56144125
TPP1
G 0.700 CausalMutation CLINVAR

dbSNP: rs756564767
rs756564767
TPP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs886037833
rs886037833
TPP1
G 0.700 CausalMutation CLINVAR