rs137853059

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

6

Position

162443314

Gene

PARK2

is a	snp
is	mentioned by
dbSNP	rs137853059
dbSNP (classic)	rs137853059
ClinGen	rs137853059
ebi	rs137853059
HLI	rs137853059
Exac	rs137853059
Gnomad	rs137853059
Varsome	rs137853059
LitVar	rs137853059
Map	rs137853059
PheGenI	rs137853059
Biobank	rs137853059
1000 genomes	rs137853059
hgdp	rs137853059
ensembl	rs137853059
geneview	rs137853059
scholar	rs137853059
google	rs137853059
pharmgkb	rs137853059
gwascentral	rs137853059
openSNP	rs137853059
23andMe	rs137853059
SNPshot	rs137853059
SNPdbe	rs137853059
MSV3d	rs137853059
GWAS Ctlg	rs137853059

Max Magnitude

9

c.167T>A (p.Val56Glu)

23andMe calls this i5007833

OMIM	602544
Desc
Variant	0013
Related	also

ClinVar
Risk	Rs137853059(A;A)
Alt	Rs137853059(A;A)
Reference	Rs137853059(T;T)
Significance	Pathogenic
Disease	Parkinson disease 2
Variation	info
Gene	PARK2
CLNDBN	Parkinson disease 2
Reversed	1
HGVS	NC_000006.11:g.162864346A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007463.3,