rs74315354

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

7984971

Gene

PARK7

is a	snp
is	mentioned by
dbSNP	rs74315354
dbSNP (classic)	rs74315354
ClinGen	rs74315354
ebi	rs74315354
HLI	rs74315354
Exac	rs74315354
Gnomad	rs74315354
Varsome	rs74315354
LitVar	rs74315354
Map	rs74315354
PheGenI	rs74315354
Biobank	rs74315354
1000 genomes	rs74315354
hgdp	rs74315354
ensembl	rs74315354
geneview	rs74315354
scholar	rs74315354
google	rs74315354
pharmgkb	rs74315354
gwascentral	rs74315354
openSNP	rs74315354
23andMe	rs74315354
SNPshot	rs74315354
SNPdbe	rs74315354
MSV3d	rs74315354
GWAS Ctlg	rs74315354

Max Magnitude

8.7

c.[-24+75_-24+92dup;487G>A] – Haplotype

23andMe calls this i5047038

OMIM	602533
Desc
Variant	0006
Related	also

ClinVar
Risk	Rs74315354(A;A)
Alt	Rs74315354(A;A)
Reference	Rs74315354(G;G)
Significance	Pathogenic
Disease	Parkinson disease 7
Variation	info
Gene	PARK7
CLNDBN	Parkinson disease 7
Reversed	0
HGVS	NC_000001.10:g.8045031G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007484.1,