rs6991
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 0 | normal |
| (G;T) | 6 | Diamond-Blackfan anemia, type 4 (predicted) |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/142 |
| Chromosome | 15 |
| Position | 82538982 |
| Gene | RPS17 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6991 |
| dbSNP (classic) | rs6991 |
| ClinGen | rs6991 |
| ebi | rs6991 |
| HLI | rs6991 |
| Exac | rs6991 |
| Gnomad | rs6991 |
| Varsome | rs6991 |
| LitVar | rs6991 |
| Map | rs6991 |
| PheGenI | rs6991 |
| Biobank | rs6991 |
| 1000 genomes | rs6991 |
| hgdp | rs6991 |
| ensembl | rs6991 |
| geneview | rs6991 |
| scholar | rs6991 |
| rs6991 | |
| pharmgkb | rs6991 |
| gwascentral | rs6991 |
| openSNP | rs6991 |
| 23andMe | rs6991 |
| SNPshot | rs6991 |
| SNPdbe | rs6991 |
| MSV3d | rs6991 |
| GWAS Ctlg | rs6991 |
| Max Magnitude | 6 |
As designated on the minus strand in dbSNP, the alleles C and T are normal/benign polymorphisms, whereas the rs6991(G) allele, also known as c.159T>G or p.Tyr53Ter, is a rare mutation associated with Diamond-Blackfan anemia, type 4, a dominantly inherited condition (or one arising from de novo mutation).[PMID 23718193]
| ClinVar | |
|---|---|
| Risk | Rs6991(C;C) rs6991(G;G) |
| Alt | Rs6991(C;C) rs6991(G;G) |
| Reference | Rs6991(T;T) |
| Significance | Pathogenic |
| Disease | Diamond-Blackfan anemia 4 not specified |
| Variation | info |
| Gene | RPS17 |
| CLNDBN | Diamond-Blackfan anemia 4 not specified |
| Reversed | 1 |
| HGVS | NC_000015.9:g.82823390A>C; NC_000015.9:g.83207733A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000087020.4, RCV000478127.1, |
