rs74315360

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

20638104

Gene

PINK1

is a	snp
is	mentioned by
dbSNP	rs74315360
dbSNP (classic)	rs74315360
ClinGen	rs74315360
ebi	rs74315360
HLI	rs74315360
Exac	rs74315360
Gnomad	rs74315360
Varsome	rs74315360
LitVar	rs74315360
Map	rs74315360
PheGenI	rs74315360
Biobank	rs74315360
1000 genomes	rs74315360
hgdp	rs74315360
ensembl	rs74315360
geneview	rs74315360
scholar	rs74315360
google	rs74315360
pharmgkb	rs74315360
gwascentral	rs74315360
openSNP	rs74315360
23andMe	rs74315360
SNPshot	rs74315360
SNPdbe	rs74315360
MSV3d	rs74315360
GWAS Ctlg	rs74315360

Max Magnitude

8.9

c.650C>A (p.Ala217Asp)

23andMe calls this i5003747

OMIM	608309
Desc
Variant	0011
Related	also

ClinVar
Risk	Rs74315360(A;A)
Alt	Rs74315360(A;A)
Reference	Rs74315360(C;C)
Significance	Pathogenic
Disease	Parkinson disease 6
Variation	info
Gene	PINK1
CLNDBN	Parkinson disease 6, autosomal recessive early-onset
Reversed	0
HGVS	NC_000001.10:g.20964597C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002515.3,