rs397514694

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	Carrier of an early-onset Parkinson's mutation
(T;T)	9	Early-onset (juvenile) Parkinson's disease likely

Reference

GRCh38 38.1/141

Chromosome

6

Position

161350205

Gene

PARK2

is a	snp
is	mentioned by
dbSNP	rs397514694
dbSNP (classic)	rs397514694
ClinGen	rs397514694
ebi	rs397514694
HLI	rs397514694
Exac	rs397514694
Gnomad	rs397514694
Varsome	rs397514694
LitVar	rs397514694
Map	rs397514694
PheGenI	rs397514694
Biobank	rs397514694
1000 genomes	rs397514694
hgdp	rs397514694
ensembl	rs397514694
geneview	rs397514694
scholar	rs397514694
google	rs397514694
pharmgkb	rs397514694
gwascentral	rs397514694
openSNP	rs397514694
23andMe	rs397514694
SNPshot	rs397514694
SNPdbe	rs397514694
MSV3d	rs397514694
GWAS Ctlg	rs397514694

Max Magnitude

9

c.1292G>T (p.Cys431Phe)

23andMe calls this i5047025

ClinVar
Risk	Rs397514694(T;T)
Alt	Rs397514694(T;T)
Reference	Rs397514694(G;G)
Significance	Pathogenic
Disease	Parkinson disease 2
Variation	info
Gene	PARK2
CLNDBN	Parkinson disease 2
Reversed	1
HGVS	NC_000006.11:g.161771237C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000043509.3,