rs74315355

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	8.9	Parkinson's disease, type 6, early-onset
(A;G)	3	Carrier of an early-onset Parkinson's mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

1

Position

20644639

Gene	PINK1, PINK1-AS

is a	snp
is	mentioned by
dbSNP	rs74315355
dbSNP (classic)	rs74315355
ClinGen	rs74315355
ebi	rs74315355
HLI	rs74315355
Exac	rs74315355
Gnomad	rs74315355
Varsome	rs74315355
LitVar	rs74315355
Map	rs74315355
PheGenI	rs74315355
Biobank	rs74315355
1000 genomes	rs74315355
hgdp	rs74315355
ensembl	rs74315355
geneview	rs74315355
scholar	rs74315355
google	rs74315355
pharmgkb	rs74315355
gwascentral	rs74315355
openSNP	rs74315355
23andMe	rs74315355
SNPshot	rs74315355
SNPdbe	rs74315355
MSV3d	rs74315355
GWAS Ctlg	rs74315355

Max Magnitude

8.9

c.926G>A (p.Gly309Asp)

23andMe calls this i5047107

OMIM	608309
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs74315355(A;A)
Alt	Rs74315355(A;A)
Reference	Rs74315355(G;G)
Significance	Pathogenic
Disease	Parkinson disease 6
Variation	info
Gene	PINK1-AS PINK1
CLNDBN	Parkinson disease 6, autosomal recessive early-onset
Reversed	0
HGVS	NC_000001.10:g.20971132G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002505.2,