rs34726542
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs34726542(A;C) |
| Make rs34726542(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225679 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34726542 |
| dbSNP (classic) | rs34726542 |
| ClinGen | rs34726542 |
| ebi | rs34726542 |
| HLI | rs34726542 |
| Exac | rs34726542 |
| Gnomad | rs34726542 |
| Varsome | rs34726542 |
| LitVar | rs34726542 |
| Map | rs34726542 |
| PheGenI | rs34726542 |
| Biobank | rs34726542 |
| 1000 genomes | rs34726542 |
| hgdp | rs34726542 |
| ensembl | rs34726542 |
| geneview | rs34726542 |
| scholar | rs34726542 |
| rs34726542 | |
| pharmgkb | rs34726542 |
| gwascentral | rs34726542 |
| openSNP | rs34726542 |
| 23andMe | rs34726542 |
| SNPshot | rs34726542 |
| SNPdbe | rs34726542 |
| MSV3d | rs34726542 |
| GWAS Ctlg | rs34726542 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34726542(C;C) |
| Alt | rs34726542(C;C) |
| Reference | Rs34726542(A;A) |
| Significance | Pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | HBB |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246909T>G |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016568.3, |
[PMID 511584] Hemoglobin Riyadh-beta 0-thalassemia in an Indian family.
[PMID 893129] Hemoglobin Riyadh in a Mexican American family of Spanish ancestry.
[PMID 1052171] Hemoglobin Riyadh--alpha2beta2 (120(GH3)Lys replaced by Asn). A new variant found in association with alpha-thalassemia and iron deficiency.
