rs74315352

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

7984930

Gene

PARK7

is a	snp
is	mentioned by
dbSNP	rs74315352
dbSNP (classic)	rs74315352
ClinGen	rs74315352
ebi	rs74315352
HLI	rs74315352
Exac	rs74315352
Gnomad	rs74315352
Varsome	rs74315352
LitVar	rs74315352
Map	rs74315352
PheGenI	rs74315352
Biobank	rs74315352
1000 genomes	rs74315352
hgdp	rs74315352
ensembl	rs74315352
geneview	rs74315352
scholar	rs74315352
google	rs74315352
pharmgkb	rs74315352
gwascentral	rs74315352
openSNP	rs74315352
23andMe	rs74315352
SNPshot	rs74315352
SNPdbe	rs74315352
MSV3d	rs74315352
GWAS Ctlg	rs74315352

GMAF

0.002296

Max Magnitude

8.7

c.446A>C (p.Asp149Ala)

23andMe calls this i5047043

OMIM	602533
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs74315352(C;C)
Alt	Rs74315352(C;C)
Reference	Rs74315352(A;A)
Significance	Pathogenic
Disease	Parkinson disease 7
Variation	info
Gene	PARK7
CLNDBN	Parkinson disease 7
Reversed	0
HGVS	NC_000001.10:g.8044990A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007482.4,