rs74315353

plus

Geno	Mag	Summary
(C;C)	8.7	Parkinson's disease, type 7, early-onset
(C;G)	3	Carrier of an early-onset Parkinson's mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

1

Position

7965425

Gene

PARK7

is a	snp
is	mentioned by
dbSNP	rs74315353
dbSNP (classic)	rs74315353
ClinGen	rs74315353
ebi	rs74315353
HLI	rs74315353
Exac	rs74315353
Gnomad	rs74315353
Varsome	rs74315353
LitVar	rs74315353
Map	rs74315353
PheGenI	rs74315353
Biobank	rs74315353
1000 genomes	rs74315353
hgdp	rs74315353
ensembl	rs74315353
geneview	rs74315353
scholar	rs74315353
google	rs74315353
pharmgkb	rs74315353
gwascentral	rs74315353
openSNP	rs74315353
23andMe	rs74315353
SNPshot	rs74315353
SNPdbe	rs74315353
MSV3d	rs74315353
GWAS Ctlg	rs74315353

Max Magnitude

8.7

c.192G>C (p.Glu64Asp or E64D)

Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal recessive, early-onset Parkinson disease (type 7)

See also OMIM 602533.0005

23andMe names this i5047044

OMIM	602533
Desc
Variant	0005
Related	also

ClinVar
Risk	Rs74315353(C;C)
Alt	Rs74315353(C;C)
Reference	Rs74315353(G;G)
Significance	Pathogenic
Disease	Parkinson disease 7
Variation	info
Gene	PARK7
CLNDBN	Parkinson disease 7
Reversed	0
HGVS	NC_000001.10:g.8025485G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007483.3,