rs1342971994, SNCA

N. diseases: 1
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
0.020 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
0.020 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