rs104893937, SNCB

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.730 GeneticVariation BEFREE Furthermore, two missense mutations (P123H and V70M) of beta-syn were recently identified in DLB. 19711118 2009
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.730 GeneticVariation BEFREE Two missense mutations (P123H and V70M) of beta-synuclein (beta-syn), the homologue of alpha-syn, have been recently identified in dementia with Lewy bodies. 17652097 2007
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.730 GeneticVariation BEFREE Two amino acid alterations were identified in unrelated DLB index cases: a valine to methionine substitution at codon 70 (V70M) and a proline to histidine substitution at codon 123 (P123H), both in the beta-synuclein gene. 15365127 2004
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.730 CausalMutation CLINVAR
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.010 GeneticVariation BEFREE Collectively, the results demonstrated unambiguously that overexpression of beta-syn mutants (P123H and V70M) in neuroblastoma cells results in an enhanced lysosomal pathology. 17652097 2007
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
0.010 GeneticVariation BEFREE Collectively, the results demonstrated unambiguously that overexpression of beta-syn mutants (P123H and V70M) in neuroblastoma cells results in an enhanced lysosomal pathology. 17652097 2007
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.010 GeneticVariation BEFREE Collectively, the results demonstrated unambiguously that overexpression of beta-syn mutants (P123H and V70M) in neuroblastoma cells results in an enhanced lysosomal pathology. 17652097 2007