rs1052553
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1052553(A;G) |
| Make rs1052553(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 45996523 |
| Gene | MAPT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1052553 |
| dbSNP (classic) | rs1052553 |
| ClinGen | rs1052553 |
| ebi | rs1052553 |
| HLI | rs1052553 |
| Exac | rs1052553 |
| Gnomad | rs1052553 |
| Varsome | rs1052553 |
| LitVar | rs1052553 |
| Map | rs1052553 |
| PheGenI | rs1052553 |
| Biobank | rs1052553 |
| 1000 genomes | rs1052553 |
| hgdp | rs1052553 |
| ensembl | rs1052553 |
| geneview | rs1052553 |
| scholar | rs1052553 |
| rs1052553 | |
| pharmgkb | rs1052553 |
| gwascentral | rs1052553 |
| openSNP | rs1052553 |
| 23andMe | rs1052553 |
| SNPshot | rs1052553 |
| SNPdbe | rs1052553 |
| MSV3d | rs1052553 |
| GWAS Ctlg | rs1052553 |
| GMAF | 0.1175 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19912324
] Association of the MAPT locus with Parkinson's disease
[PMID 21159074] SNCA, MAPT, and GSK3B in Parkinson disease: a gene-gene interaction study
| ClinVar | |
|---|---|
| Risk | rs1052553(G;G) |
| Alt | rs1052553(G;G) |
| Reference | Rs1052553(A;A) |
| Significance | Non-pathogenic |
| Disease | not provided not specified MAPT-Related Spectrum Disorders |
| Variation | info |
| Gene | MAPT |
| CLNDBN | not provided not specified MAPT-Related Spectrum Disorders |
| Reversed | 0 |
| HGVS | NC_000017.10:g.44073889A>G |
| CLNSRC | ClinVar Neurodegenerative Brain Diseases Group |
| CLNACC | RCV000084512.1, RCV000243822.1, RCV000295833.1, |
[PMID 18509094] Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study.
[PMID 20116045] The distribution and most recent common ancestor of the 17q21 inversion in humans.
[PMID 21391235] Independent and joint effects of the MAPT and SNCA genes in Parkinson disease.
[PMID 23911736] MAPT Gene Rs1052553 Variant is not Associated with the Risk for Multiple Sclerosis
[PMID 23962496] The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants
[PMID 24372973] The microtubule associated protein tau H1 haplotype and risk of essential tremor
[PMID 23001634] MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome.
