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rs1043424

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
Make rs1043424(A;C)
Make rs1043424(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position20650507
GenePINK1, PINK1-AS
is asnp
is mentioned by
dbSNPrs1043424
ebirs1043424
HLIrs1043424
Exacrs1043424
Varsomers1043424
Maprs1043424
PheGenIrs1043424
hapmaprs1043424
1000 genomesrs1043424
hgdprs1043424
ensemblrs1043424
gopubmedrs1043424
geneviewrs1043424
scholarrs1043424
googlers1043424
pharmgkbrs1043424
gwascentralrs1043424
openSNPrs1043424
23andMers1043424
23andMe allrs1043424
SNP Nexus

SNPshotrs1043424
SNPdbers1043424
MSV3drs1043424
GWAS Ctlgrs1043424
GMAF0.2805
Max Magnitude0
? (A;A) (A;C) (C;C) 28


Venter snp
Source plos
Gene PINK1
allele C
frequency 0.342
sift AFFECT FUNCTION
HuRef 1103675040793
Disease Association Defects in PINK1 are the cause of autosomal recessive early-onset Parkinson disease 6 (PARK6) (MIM:605909, 168600). Parkinson disease (PD) is a complex, multifactorial disorder that typically manifests after the age of 50 years, although early- onset cases (before 50 years) are known. PD generally arises as a sporadic condition but is occasionally inherited as a simple mendelian trait. Although sporadic and familial PD are very similar, inherited forms of the disease usually begin at earlier ages and are associated with atypical clinical features. PD is characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.



[PMID 18778477OA-icon.png] Genomic variation in myeloma: design, content, and initial application of the Bank On A Cure SNP Panel to detect associations with progression-free survival.


GET Evidence
PINK1-N521T
aa_change Asn521Thr
aa_change_short N521T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.269288
summary