rs1800547
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1 | MAPT H1/H1 diplotype |
| (A;G) | 1 | MAPT H1/H2 (heterozygous) diplotype |
| (G;G) | 1 | MAPT H2/H2 diplotype |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 45974480 |
| Gene | MAPT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800547 |
| dbSNP (classic) | rs1800547 |
| ClinGen | rs1800547 |
| ebi | rs1800547 |
| HLI | rs1800547 |
| Exac | rs1800547 |
| Gnomad | rs1800547 |
| Varsome | rs1800547 |
| LitVar | rs1800547 |
| Map | rs1800547 |
| PheGenI | rs1800547 |
| Biobank | rs1800547 |
| 1000 genomes | rs1800547 |
| hgdp | rs1800547 |
| ensembl | rs1800547 |
| geneview | rs1800547 |
| scholar | rs1800547 |
| rs1800547 | |
| pharmgkb | rs1800547 |
| gwascentral | rs1800547 |
| openSNP | rs1800547 |
| 23andMe | rs1800547 |
| SNPshot | rs1800547 |
| SNPdbe | rs1800547 |
| MSV3d | rs1800547 |
| GWAS Ctlg | rs1800547 |
| GMAF | 0.1171 |
| Max Magnitude | 1 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 21425343
] replicates the association between rs1800547 and late-onset Parkinson's disease, calculating an odds ratio of 0.77 (CI: 0.66 - 0.88, p=3x10e-4) for the rarer rs1800547(G) allele among 1445 patients from northern Spain.
[PMID 18509094] significantly associated with parkinson's disease
[PMID 20951764] High cerebrospinal tau levels are associated with the rs242557 tau gene variant and low cerebrospinal beta-amyloid in Parkinson disease
[PMID 22104010] SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population
[PMID 19558713] Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease.
[PMID 19763160] Genetic analysis of variation in human meiotic recombination.
| ClinVar | |
|---|---|
| Risk | Rs1800547(G;G) |
| Alt | Rs1800547(G;G) |
| Reference | Rs1800547(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified MAPT-Related Spectrum Disorders |
| Variation | info |
| Gene | MAPT |
| CLNDBN | not specified MAPT-Related Spectrum Disorders |
| Reversed | 0 |
| HGVS | NC_000017.10:g.44051846A>G |
| CLNSRC | |
| CLNACC | RCV000249235.1, RCV000353232.1, |
[PMID 29084565] Haplotype-specific MAPT exon 3 expression regulated by common intronic polymorphisms associated with Parkinsonian disorders.
[PMID 31866851] The MAPT H1 Haplotype Is a Risk Factor for Alzheimer's Disease in APOE ε4 Non-carriers.
