BECN1, beclin 1, 8678

N. diseases: 373; N. variants: 2
Disease: Familial (FPAH) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1202752581
rs1202752581
Entrez Id: 8678
Gene Symbol: BECN1
BECN1
CUI: C1611743
Disease:
Familial (FPAH) 		0.010 GeneticVariation BEFREE Genetic studies have revealed that rare point mutations in the gene encoding α-synuclein including A30P, A53T, and E46K are associated with familial forms of PD, indicating a pathological role for mutant α-synuclein in PD etiology. 24833599 2014