rs137853054

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

6

Position

161973317

Gene

PARK2

is a	snp
is	mentioned by
dbSNP	rs137853054
dbSNP (classic)	rs137853054
ClinGen	rs137853054
ebi	rs137853054
HLI	rs137853054
Exac	rs137853054
Gnomad	rs137853054
Varsome	rs137853054
LitVar	rs137853054
Map	rs137853054
PheGenI	rs137853054
Biobank	rs137853054
1000 genomes	rs137853054
hgdp	rs137853054
ensembl	rs137853054
geneview	rs137853054
scholar	rs137853054
google	rs137853054
pharmgkb	rs137853054
gwascentral	rs137853054
openSNP	rs137853054
23andMe	rs137853054
SNPshot	rs137853054
SNPdbe	rs137853054
MSV3d	rs137853054
GWAS Ctlg	rs137853054

Max Magnitude

9

c.719C>G (p.Thr240Arg)

23andMe calls this i5046960

OMIM	602544
Desc
Variant	0003
Related	also

OMIM	602544
Desc
Variant	0021
Related	also

ClinVar
Risk	rs137853054(A;A) Rs137853054(G;G) rs137853054(T;T)
Alt	rs137853054(A;A) Rs137853054(G;G) rs137853054(T;T)
Reference	Rs137853054(C;C)
Significance	Pathogenic
Disease	Parkinson disease 2 not provided
Variation	info
Gene	PARK2
CLNDBN	Parkinson disease 2 not provided
Reversed	1
HGVS	NC_000006.11:g.162394349G>A; NC_000006.11:g.162394349G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007470.4, RCV000419390.1, RCV000007452.5,