rs3758549
| Orientation | minus |
| Stabilized | minus |
| 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 |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 102244438 |
| Gene | GBF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3758549 |
| dbSNP (classic) | rs3758549 |
| ClinGen | rs3758549 |
| ebi | rs3758549 |
| HLI | rs3758549 |
| Exac | rs3758549 |
| Gnomad | rs3758549 |
| Varsome | rs3758549 |
| LitVar | rs3758549 |
| Map | rs3758549 |
| PheGenI | rs3758549 |
| Biobank | rs3758549 |
| 1000 genomes | rs3758549 |
| hgdp | rs3758549 |
| ensembl | rs3758549 |
| geneview | rs3758549 |
| scholar | rs3758549 |
| rs3758549 | |
| pharmgkb | rs3758549 |
| gwascentral | rs3758549 |
| openSNP | rs3758549 |
| 23andMe | rs3758549 |
| SNPshot | rs3758549 |
| SNPdbe | rs3758549 |
| MSV3d | rs3758549 |
| GWAS Ctlg | rs3758549 |
| GMAF | 0.1405 |
| Max Magnitude | 1.1 |
| ? | (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 19754401
] 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
