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rs3758549

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 1.1 increased risk of parkinson's disease
(C;T) 0 normal risk of parkinson's disease
(T;T) 0 normal risk of parkinson's disease
ReferenceGRCh38 38.1/142
Chromosome10
Position102244438
GeneGBF1
is asnp
is mentioned by
dbSNPrs3758549
ebirs3758549
HLIrs3758549
Exacrs3758549
Varsomers3758549
Maprs3758549
PheGenIrs3758549
hapmaprs3758549
1000 genomesrs3758549
hgdprs3758549
ensemblrs3758549
gopubmedrs3758549
geneviewrs3758549
scholarrs3758549
googlers3758549
pharmgkbrs3758549
gwascentralrs3758549
openSNPrs3758549
23andMers3758549
23andMe allrs3758549
SNP Nexus

SNPshotrs3758549
SNPdbers3758549
MSV3drs3758549
GWAS Ctlgrs3758549
GMAF0.1405
Max Magnitude1.1
? (C;C) (C;T) (T;T) 28
CC linked to parkinson's disease

[PMID 17905480] We provide evidence for a novel, strong and reproducible association of the PITX3 promoter SNP rs3758549 : C>T (p=0.004) with PD. The C-allele appears to be a recessive risk allele with an estimated population frequency of 83%.


[PMID 19345444] Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease.


[PMID 21138504] The transcription factor Pitx3 is a risk modifier for Parkinson's disease in a Chinese Han population


[PMID 21524731] PITX3 gene polymorphism is associated with Parkinson's disease in Chinese population


[PMID 21565251] Genetic variants of the PITX3 gene are not associated with late-onset sporadic Parkinson's disease in a Chinese population


[PMID 22411443] A novel synonymous SNP in PITX3 is associated with Parkinson's disease in Chinese population


[PMID 18420308] PITX3 polymorphism is associated with early onset Parkinson's disease.


[PMID 19754401OA-icon.png] The role of transcription factor Pitx3 in dopamine neuron development and Parkinson's disease.


[PMID 22037506] PITX3 polymorphism is not associated with Parkinson's disease in a Chinese population.


[PMID 24394914] Association between PITX3 promoter polymorphism and risk of Parkinson's disease: The impact of ethnicity and onset age


[PMID 24525476] PITX3 and Risk for Parkinson's Disease: A Systematic Review and Meta-Analysis