rs28933979
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | TTR-related familial amyloid polyneuropathy |
| (A;G) | 5.5 | TTR-related amyloidosis |
| (C;G) | 5.5 | TTR-related amyloidosis |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 31592974 |
| Gene | TTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28933979 |
| dbSNP (classic) | rs28933979 |
| ClinGen | rs28933979 |
| ebi | rs28933979 |
| HLI | rs28933979 |
| Exac | rs28933979 |
| Gnomad | rs28933979 |
| Varsome | rs28933979 |
| LitVar | rs28933979 |
| Map | rs28933979 |
| PheGenI | rs28933979 |
| Biobank | rs28933979 |
| 1000 genomes | rs28933979 |
| hgdp | rs28933979 |
| ensembl | rs28933979 |
| geneview | rs28933979 |
| scholar | rs28933979 |
| rs28933979 | |
| pharmgkb | rs28933979 |
| gwascentral | rs28933979 |
| openSNP | rs28933979 |
| 23andMe | rs28933979 |
| SNPshot | rs28933979 |
| SNPdbe | rs28933979 |
| MSV3d | rs28933979 |
| GWAS Ctlg | rs28933979 |
| Max Magnitude | 5.5 |
rs28933979, also known as V30M, V50M, Val30Met, Val50Met and 148G>A, is a mutation in the transthyretin TTR gene.
The risk allele for this SNP, rs28933979(A), is considered causative for TTR-related familial amyloid polyneuropathy, with the majority of carriers developing the condition by the time they are 80, although the age of onset varies. This mutation is reported to be more common in Portugal as well as Sweden and Japan.
A 2018 angiographic study of 18 V30M-confirmed patients reported that both retinal amyloid angiopathy (RAA) and choroidal amyloid angiopathy (CAA) were detected in 92% - 100% of eyes examined.[PMID 29859145]
23andMe name: i3002758
| ClinVar | |
|---|---|
| Risk | Rs28933979(A;A) rs28933979(C;C) |
| Alt | Rs28933979(A;A) rs28933979(C;C) |
| Reference | Rs28933979(G;G) |
| Significance | Pathogenic |
| Disease | Amyloidogenic transthyretin amyloidosis not provided |
| Variation | info |
| Gene | TTR |
| CLNDBN | Amyloidogenic transthyretin amyloidosis not provided |
| Reversed | 0 |
| HGVS | NC_000018.9:g.29172937G>A; NC_000018.9:g.29172937G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014359.29, RCV000159423.3, RCV000014382.25, |
