rs137853058

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

161973401

Gene

PARK2

is a	snp
is	mentioned by
dbSNP	rs137853058
dbSNP (classic)	rs137853058
ClinGen	rs137853058
ebi	rs137853058
HLI	rs137853058
Exac	rs137853058
Gnomad	rs137853058
Varsome	rs137853058
LitVar	rs137853058
Map	rs137853058
PheGenI	rs137853058
Biobank	rs137853058
1000 genomes	rs137853058
hgdp	rs137853058
ensembl	rs137853058
geneview	rs137853058
scholar	rs137853058
google	rs137853058
pharmgkb	rs137853058
gwascentral	rs137853058
openSNP	rs137853058
23andMe	rs137853058
SNPshot	rs137853058
SNPdbe	rs137853058
MSV3d	rs137853058
GWAS Ctlg	rs137853058

Max Magnitude

9

c.635G>A (p.Cys212Tyr)

23andMe calls this i5007832

OMIM	602544
Desc
Variant	0012
Related	also

ClinVar
Risk	Rs137853058(A;A)
Alt	Rs137853058(A;A)
Reference	Rs137853058(G;G)
Significance	Pathogenic
Disease	Parkinson disease 2
Variation	info
Gene	PARK2
CLNDBN	Parkinson disease 2
Reversed	1
HGVS	NC_000006.11:g.162394433C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007462.5,