rs137853055

Orientation

minus

Stabilized

minus

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

161569357

Gene

PARK2

is a	snp
is	mentioned by
dbSNP	rs137853055
dbSNP (classic)	rs137853055
ClinGen	rs137853055
ebi	rs137853055
HLI	rs137853055
Exac	rs137853055
Gnomad	rs137853055
Varsome	rs137853055
LitVar	rs137853055
Map	rs137853055
PheGenI	rs137853055
Biobank	rs137853055
1000 genomes	rs137853055
hgdp	rs137853055
ensembl	rs137853055
geneview	rs137853055
scholar	rs137853055
google	rs137853055
pharmgkb	rs137853055
gwascentral	rs137853055
openSNP	rs137853055
23andMe	rs137853055
SNPshot	rs137853055
SNPdbe	rs137853055
MSV3d	rs137853055
GWAS Ctlg	rs137853055

Max Magnitude

9

c.931C>T (p.Gln311Ter)

23andMe calls this i5007828

OMIM	602544
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs137853055(T;T)
Alt	Rs137853055(T;T)
Reference	Rs137853055(C;C)
Significance	Pathogenic
Disease	Parkinson disease 2
Variation	info
Gene	PARK2
CLNDBN	Parkinson disease 2
Reversed	1
HGVS	NC_000006.11:g.161990389G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007453.5,