rs137853056

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	9	Early-onset (juvenile) Parkinson's disease likely
(A;G)	3	Carrier of an early-onset Parkinson's mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

6

Position

161350139

Gene

PARK2

is a	snp
is	mentioned by
dbSNP	rs137853056
dbSNP (classic)	rs137853056
ClinGen	rs137853056
ebi	rs137853056
HLI	rs137853056
Exac	rs137853056
Gnomad	rs137853056
Varsome	rs137853056
LitVar	rs137853056
Map	rs137853056
PheGenI	rs137853056
Biobank	rs137853056
1000 genomes	rs137853056
hgdp	rs137853056
ensembl	rs137853056
geneview	rs137853056
scholar	rs137853056
google	rs137853056
pharmgkb	rs137853056
gwascentral	rs137853056
openSNP	rs137853056
23andMe	rs137853056
SNPshot	rs137853056
SNPdbe	rs137853056
MSV3d	rs137853056
GWAS Ctlg	rs137853056

Max Magnitude

9

c.1358G>A (p.Trp453Ter)

23andMe calls this i5047028

OMIM	602544
Desc
Variant	0007
Related	also

ClinVar
Risk	Rs137853056(A;A)
Alt	Rs137853056(A;A)
Reference	Rs137853056(G;G)
Significance	Pathogenic
Disease	Parkinson disease 2
Variation	info
Gene	PARK2
CLNDBN	Parkinson disease 2
Reversed	1
HGVS	NC_000006.11:g.161771171C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007458.3,