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rs45539432

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) possibly prone to developing Parkinson's
(T;T) associated in one family with early onset Parkinson's
ReferenceGRCh38 38.1/141
Chromosome1
Position20649109
GenePINK1, PINK1-AS
is asnp
is mentioned by
dbSNPrs45539432
ebirs45539432
HLIrs45539432
Exacrs45539432
Varsomers45539432
Maprs45539432
PheGenIrs45539432
hapmaprs45539432
1000 genomesrs45539432
hgdprs45539432
ensemblrs45539432
gopubmedrs45539432
geneviewrs45539432
scholarrs45539432
googlers45539432
pharmgkbrs45539432
gwascentralrs45539432
openSNPrs45539432
23andMers45539432
23andMe allrs45539432
SNP Nexus

SNPshotrs45539432
SNPdbers45539432
MSV3drs45539432
GWAS Ctlgrs45539432
GMAF0.0004591
Max Magnitude0
rs45539432, also known as 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]
OMIM608309
Desc
Variant0012
Relatedalso


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,