rs1800458
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1800458(A;A) |
| Make rs1800458(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 31592902 |
| Gene | TTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800458 |
| dbSNP (classic) | rs1800458 |
| ClinGen | rs1800458 |
| ebi | rs1800458 |
| HLI | rs1800458 |
| Exac | rs1800458 |
| Gnomad | rs1800458 |
| Varsome | rs1800458 |
| LitVar | rs1800458 |
| Map | rs1800458 |
| PheGenI | rs1800458 |
| Biobank | rs1800458 |
| 1000 genomes | rs1800458 |
| hgdp | rs1800458 |
| ensembl | rs1800458 |
| geneview | rs1800458 |
| scholar | rs1800458 |
| rs1800458 | |
| pharmgkb | rs1800458 |
| gwascentral | rs1800458 |
| openSNP | rs1800458 |
| 23andMe | rs1800458 |
| SNPshot | rs1800458 |
| SNPdbe | rs1800458 |
| MSV3d | rs1800458 |
| GWAS Ctlg | rs1800458 |
| GMAF | 0.03398 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1800458(A;A) |
| Alt | rs1800458(A;A) |
| Reference | Rs1800458(G;G) |
| Significance | Non-pathogenic |
| Disease | TRANSTHYRETIN POLYMORPHISM not specified Cardiovascular phenotype |
| Variation | info |
| Gene | TTR |
| CLNDBN | TRANSTHYRETIN POLYMORPHISM not specified Cardiovascular phenotype |
| Reversed | 0 |
| HGVS | NC_000018.9:g.29172865G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014394.2, RCV000036379.8, RCV000250966.1, |
[PMID 16716350] Transthyretin: no association between serum levels or gene variants and schizophrenia.
[PMID 19328595
] Association of TTR polymorphisms with hippocampal atrophy in Alzheimer disease families.
