rs74315359

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

20644651

Gene	PINK1, PINK1-AS

is a	snp
is	mentioned by
dbSNP	rs74315359
dbSNP (classic)	rs74315359
ClinGen	rs74315359
ebi	rs74315359
HLI	rs74315359
Exac	rs74315359
Gnomad	rs74315359
Varsome	rs74315359
LitVar	rs74315359
Map	rs74315359
PheGenI	rs74315359
Biobank	rs74315359
1000 genomes	rs74315359
hgdp	rs74315359
ensembl	rs74315359
geneview	rs74315359
scholar	rs74315359
google	rs74315359
pharmgkb	rs74315359
gwascentral	rs74315359
openSNP	rs74315359
23andMe	rs74315359
SNPshot	rs74315359
SNPdbe	rs74315359
MSV3d	rs74315359
GWAS Ctlg	rs74315359

Max Magnitude

8.9

c.938C>T (p.Thr313Met)

23andMe calls this i5003748

OMIM	608309
Desc
Variant	0010
Related	also

ClinVar
Risk	Rs74315359(T;T)
Alt	Rs74315359(T;T)
Reference	Rs74315359(C;C)
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.20971144C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002514.3,