rs137853060

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

161973403

Gene

PARK2

is a	snp
is	mentioned by
dbSNP	rs137853060
dbSNP (classic)	rs137853060
ClinGen	rs137853060
ebi	rs137853060
HLI	rs137853060
Exac	rs137853060
Gnomad	rs137853060
Varsome	rs137853060
LitVar	rs137853060
Map	rs137853060
PheGenI	rs137853060
Biobank	rs137853060
1000 genomes	rs137853060
hgdp	rs137853060
ensembl	rs137853060
geneview	rs137853060
scholar	rs137853060
google	rs137853060
pharmgkb	rs137853060
gwascentral	rs137853060
openSNP	rs137853060
23andMe	rs137853060
SNPshot	rs137853060
SNPdbe	rs137853060
MSV3d	rs137853060
GWAS Ctlg	rs137853060

Max Magnitude

9

c.633A>T (p.Lys211Asn)

OMIM	602544
Desc
Variant	0018
Related	also

ClinVar
Risk	Rs137853060(T;T)
Alt	Rs137853060(T;T)
Reference	Rs137853060(A;A)
Significance	Pathogenic
Disease	Parkinson disease 2
Variation	info
Gene	PARK2
CLNDBN	Parkinson disease 2
Reversed	1
HGVS	NC_000006.11:g.162394435T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007467.3,