rs137853057

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;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

162201182

Gene

PARK2

is a	snp
is	mentioned by
dbSNP	rs137853057
dbSNP (classic)	rs137853057
ClinGen	rs137853057
ebi	rs137853057
HLI	rs137853057
Exac	rs137853057
Gnomad	rs137853057
Varsome	rs137853057
LitVar	rs137853057
Map	rs137853057
PheGenI	rs137853057
Biobank	rs137853057
1000 genomes	rs137853057
hgdp	rs137853057
ensembl	rs137853057
geneview	rs137853057
scholar	rs137853057
google	rs137853057
pharmgkb	rs137853057
gwascentral	rs137853057
openSNP	rs137853057
23andMe	rs137853057
SNPshot	rs137853057
SNPdbe	rs137853057
MSV3d	rs137853057
GWAS Ctlg	rs137853057

Max Magnitude

9

c.483A>T (p.Lys161Asn)

OMIM	602544
Desc
Variant	0008
Related	also

ClinVar
Risk	Rs137853057(T;T)
Alt	Rs137853057(T;T)
Reference	Rs137853057(A;A)
Significance	Pathogenic
Disease	Parkinson disease 2
Variation	info
Gene	PARK2
CLNDBN	Parkinson disease 2
Reversed	1
HGVS	NC_000006.11:g.162622214T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007459.3,