rs74315357

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of an early-onset Parkinson's mutation
(T;T)	8.9	Parkinson's disease, type 6, early-onset

Reference

GRCh38 38.1/141

Chromosome

1

Position

20639952

Gene

PINK1

is a	snp
is	mentioned by
dbSNP	rs74315357
dbSNP (classic)	rs74315357
ClinGen	rs74315357
ebi	rs74315357
HLI	rs74315357
Exac	rs74315357
Gnomad	rs74315357
Varsome	rs74315357
LitVar	rs74315357
Map	rs74315357
PheGenI	rs74315357
Biobank	rs74315357
1000 genomes	rs74315357
hgdp	rs74315357
ensembl	rs74315357
geneview	rs74315357
scholar	rs74315357
google	rs74315357
pharmgkb	rs74315357
gwascentral	rs74315357
openSNP	rs74315357
23andMe	rs74315357
SNPshot	rs74315357
SNPdbe	rs74315357
MSV3d	rs74315357
GWAS Ctlg	rs74315357

Max Magnitude

8.9

c.736C>T (p.Arg246Ter)

23andMe calls this i5003750

OMIM	608309
Desc
Variant	0003
Related	also

ClinVar
Risk	rs74315357(A;A) Rs74315357(T;T)
Alt	rs74315357(A;A) Rs74315357(T;T)
Reference	Rs74315357(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.20966445C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002508.3,