rs119451946

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; likely

Reference

GRCh38 38.1/141

Chromosome

1

Position

20648577

Gene	PINK1, PINK1-AS

is a	snp
is	mentioned by
dbSNP	rs119451946
dbSNP (classic)	rs119451946
ClinGen	rs119451946
ebi	rs119451946
HLI	rs119451946
Exac	rs119451946
Gnomad	rs119451946
Varsome	rs119451946
LitVar	rs119451946
Map	rs119451946
PheGenI	rs119451946
Biobank	rs119451946
1000 genomes	rs119451946
hgdp	rs119451946
ensembl	rs119451946
geneview	rs119451946
scholar	rs119451946
google	rs119451946
pharmgkb	rs119451946
gwascentral	rs119451946
openSNP	rs119451946
23andMe	rs119451946
SNPshot	rs119451946
SNPdbe	rs119451946
MSV3d	rs119451946
GWAS Ctlg	rs119451946

Max Magnitude

8.9

c.1196C>T (p.Pro399Leu)

23andMe calls this i5003745

OMIM	608309
Desc
Variant	0014
Related	also

ClinVar
Risk	Rs119451946(T;T)
Alt	Rs119451946(T;T)
Reference	Rs119451946(C;C)
Significance	Pathogenic
Disease	Parkinson disease Parkinson Disease
Variation	info
Gene	PINK1-AS PINK1
CLNDBN	Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 Parkinson Disease, Recessive
Reversed	0
HGVS	NC_000001.10:g.20975070C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002518.2, RCV000372794.1,