rs74315358

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

20644549

Gene	PINK1, PINK1-AS

is a	snp
is	mentioned by
dbSNP	rs74315358
dbSNP (classic)	rs74315358
ClinGen	rs74315358
ebi	rs74315358
HLI	rs74315358
Exac	rs74315358
Gnomad	rs74315358
Varsome	rs74315358
LitVar	rs74315358
Map	rs74315358
PheGenI	rs74315358
Biobank	rs74315358
1000 genomes	rs74315358
hgdp	rs74315358
ensembl	rs74315358
geneview	rs74315358
scholar	rs74315358
google	rs74315358
pharmgkb	rs74315358
gwascentral	rs74315358
openSNP	rs74315358
23andMe	rs74315358
SNPshot	rs74315358
SNPdbe	rs74315358
MSV3d	rs74315358
GWAS Ctlg	rs74315358

Max Magnitude

8.9

c.836G>A (p.Arg279His)

23andMe calls this i5003749

OMIM	608309
Desc
Variant	0008
Related	also

ClinVar
Risk	Rs74315358(A;A)
Alt	Rs74315358(A;A)
Reference	Rs74315358(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.20971042G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002512.2,