rs121909715
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5.5 | Familial amyloidosis; Meretoja syndrome |
| (G;G) | 0 | common in clinvar |
| Make rs121909715(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 121310819 |
| Gene | GSN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121909715 |
| dbSNP (classic) | rs121909715 |
| ClinGen | rs121909715 |
| ebi | rs121909715 |
| HLI | rs121909715 |
| Exac | rs121909715 |
| Gnomad | rs121909715 |
| Varsome | rs121909715 |
| LitVar | rs121909715 |
| Map | rs121909715 |
| PheGenI | rs121909715 |
| Biobank | rs121909715 |
| 1000 genomes | rs121909715 |
| hgdp | rs121909715 |
| ensembl | rs121909715 |
| geneview | rs121909715 |
| scholar | rs121909715 |
| rs121909715 | |
| pharmgkb | rs121909715 |
| gwascentral | rs121909715 |
| openSNP | rs121909715 |
| 23andMe | rs121909715 |
| SNPshot | rs121909715 |
| SNPdbe | rs121909715 |
| MSV3d | rs121909715 |
| GWAS Ctlg | rs121909715 |
| Merged from | Rs121909716 |
| Max Magnitude | 5.5 |
rs121909715, also known as c.520G>T, p.Asp174Tyr and D174Y, represents a rare variant in the GSN gene on chromosome 9.
The minor allele, inherited in a dominant manner, is considered pathogenic in ClinVar for Meretoja syndrome, a form of familial amyloidosis. This mutation is considered a founder mutation among Finns.
| ClinVar | |
|---|---|
| Risk | rs121909715(A;A) rs121909715(T;T) |
| Alt | rs121909715(A;A) rs121909715(T;T) |
| Reference | Rs121909715(G;G) |
| Significance | Pathogenic |
| Disease | Meretoja syndrome not provided |
| Variation | info |
| Gene | GSN |
| CLNDBN | Meretoja syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000009.11:g.124073097G>A; NC_000009.11:g.124073097G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017564.25, RCV000489240.1, RCV000017565.27, |
