rs121918070
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 5.5 | TTR-related amyloidosis |
| (G;G) | 4 | TTR-related familial amyloid polyneuropathy |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 31595157 |
| Gene | TTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918070 |
| dbSNP (classic) | rs121918070 |
| ClinGen | rs121918070 |
| ebi | rs121918070 |
| HLI | rs121918070 |
| Exac | rs121918070 |
| Gnomad | rs121918070 |
| Varsome | rs121918070 |
| LitVar | rs121918070 |
| Map | rs121918070 |
| PheGenI | rs121918070 |
| Biobank | rs121918070 |
| 1000 genomes | rs121918070 |
| hgdp | rs121918070 |
| ensembl | rs121918070 |
| geneview | rs121918070 |
| scholar | rs121918070 |
| rs121918070 | |
| pharmgkb | rs121918070 |
| gwascentral | rs121918070 |
| openSNP | rs121918070 |
| 23andMe | rs121918070 |
| SNPshot | rs121918070 |
| SNPdbe | rs121918070 |
| MSV3d | rs121918070 |
| GWAS Ctlg | rs121918070 |
| Max Magnitude | 5.5 |
rs121918070, also known as Thr60Ala, Thr80Ala, T60A, T80A, and 238A>G, is a mutation in the transthyretin TTR gene.
The risk allele for this SNP, rs121918070(G), is considered causative for TTR-related familial amyloid polyneuropathy, often manifesting as heart-related symptoms, in those carrying either one or two copies.
news article indicating up to 1% of Ireland's Donegal County may carry the T60A mutation.
23andMe name: i5004213
| ClinVar | |
|---|---|
| Risk | Rs121918070(G;G) |
| Alt | Rs121918070(G;G) |
| Reference | Rs121918070(A;A) |
| Significance | Other |
| Disease | Amyloidogenic transthyretin amyloidosis not provided |
| Variation | info |
| Gene | TTR |
| CLNDBN | Amyloidogenic transthyretin amyloidosis not provided |
| Reversed | 0 |
| HGVS | NC_000018.9:g.29175120A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014363.30, RCV000159427.2, |
