rs45539432

plus

Geno	Mag	Summary
(C;C)	0	normal
(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

20649109

Gene	PINK1, PINK1-AS

is a	snp
is	mentioned by
dbSNP	rs45539432
dbSNP (classic)	rs45539432
ClinGen	rs45539432
ebi	rs45539432
HLI	rs45539432
Exac	rs45539432
Gnomad	rs45539432
Varsome	rs45539432
LitVar	rs45539432
Map	rs45539432
PheGenI	rs45539432
Biobank	rs45539432
1000 genomes	rs45539432
hgdp	rs45539432
ensembl	rs45539432
geneview	rs45539432
scholar	rs45539432
google	rs45539432
pharmgkb	rs45539432
gwascentral	rs45539432
openSNP	rs45539432
23andMe	rs45539432
SNPshot	rs45539432
SNPdbe	rs45539432
MSV3d	rs45539432
GWAS Ctlg	rs45539432

GMAF

0.0004591

Max Magnitude

8.9

rs45539432, also known as c.1366C>T, Gln456Ter or Q456X, is a SNP in the PINK1 gene. In one German family studied, rs45539432(T;T) homozygotes exhibited early onset Parkinson's disease. Of the rs45539432(C;T) heterozygotes, half showed no signs of Parkinson's, but the other half had subtle signs of disease, consisting of unilaterally reduced or absent arm swing and rigidity.[PMID 16769864]

Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal recessive, early-onset Parkinson disease (type 6)

23andMe calls this i5047070

OMIM	608309
Desc
Variant	0012
Related	also

ClinVar
Risk	Rs45539432(T;T)
Alt	Rs45539432(T;T)
Reference	Rs45539432(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.20975602C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002516.3,