rs2258689
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | |
| (T;T) | 0 | common in clinvar |
| Make rs2258689(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 45990016 |
| Gene | MAPT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2258689 |
| dbSNP (classic) | rs2258689 |
| ClinGen | rs2258689 |
| ebi | rs2258689 |
| HLI | rs2258689 |
| Exac | rs2258689 |
| Gnomad | rs2258689 |
| Varsome | rs2258689 |
| LitVar | rs2258689 |
| Map | rs2258689 |
| PheGenI | rs2258689 |
| Biobank | rs2258689 |
| 1000 genomes | rs2258689 |
| hgdp | rs2258689 |
| ensembl | rs2258689 |
| geneview | rs2258689 |
| scholar | rs2258689 |
| rs2258689 | |
| pharmgkb | rs2258689 |
| gwascentral | rs2258689 |
| openSNP | rs2258689 |
| 23andMe | rs2258689 |
| SNPshot | rs2258689 |
| SNPdbe | rs2258689 |
| MSV3d | rs2258689 |
| GWAS Ctlg | rs2258689 |
| GMAF | 0.3242 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs2258689(C;C) |
| Alt | Rs2258689(C;C) |
| Reference | Rs2258689(T;T) |
| Significance | Non-pathogenic |
| Disease | not provided not specified |
| Variation | info |
| Gene | MAPT |
| CLNDBN | not provided not specified |
| Reversed | 0 |
| HGVS | NC_000017.10:g.44067382T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000084507.1, RCV000246568.1, |
[PMID 15297935
] Linkage disequilibrium and association of MAPT H1 in Parkinson disease.
[PMID 18509094] Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study.
[PMID 18541914] Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition.
