rs431905511

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6.5	Parkinson's disease mutation, adult-onset
(G;G)	0	common in clinvar

Make rs431905511(A;A)

Reference

GRCh38 38.1/142

Chromosome

4

Position

89828154

Gene

SNCA

is a	snp
is	mentioned by
dbSNP	rs431905511
dbSNP (classic)	rs431905511
ClinGen	rs431905511
ebi	rs431905511
HLI	rs431905511
Exac	rs431905511
Gnomad	rs431905511
Varsome	rs431905511
LitVar	rs431905511
Map	rs431905511
PheGenI	rs431905511
Biobank	rs431905511
1000 genomes	rs431905511
hgdp	rs431905511
ensembl	rs431905511
geneview	rs431905511
scholar	rs431905511
google	rs431905511
pharmgkb	rs431905511
gwascentral	rs431905511
openSNP	rs431905511
23andMe	rs431905511
SNPshot	rs431905511
SNPdbe	rs431905511
MSV3d	rs431905511
GWAS Ctlg	rs431905511

Max Magnitude

6.5

c.152G>A (p.Gly51Asp or G51D)

Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant Parkinson disease

See also OMIM 163890.0006

ClinVar
Risk	rs431905511(A;A)
Alt	rs431905511(A;A)
Reference	Rs431905511(G;G)
Significance	Pathogenic
Disease	Parkinson disease 1
Variation	info
Gene	SNCA
CLNDBN	Parkinson disease 1
Reversed	1
HGVS	NC_000004.11:g.90749305C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000083251.4,