rs36015961
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs36015961(C;C) |
| Make rs36015961(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5225698 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs36015961 |
| dbSNP (classic) | rs36015961 |
| ClinGen | rs36015961 |
| ebi | rs36015961 |
| HLI | rs36015961 |
| Exac | rs36015961 |
| Gnomad | rs36015961 |
| Varsome | rs36015961 |
| LitVar | rs36015961 |
| Map | rs36015961 |
| PheGenI | rs36015961 |
| Biobank | rs36015961 |
| 1000 genomes | rs36015961 |
| hgdp | rs36015961 |
| ensembl | rs36015961 |
| geneview | rs36015961 |
| scholar | rs36015961 |
| rs36015961 | |
| pharmgkb | rs36015961 |
| gwascentral | rs36015961 |
| openSNP | rs36015961 |
| 23andMe | rs36015961 |
| SNPshot | rs36015961 |
| SNPdbe | rs36015961 |
| MSV3d | rs36015961 |
| GWAS Ctlg | rs36015961 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs36015961(C;C) |
| Alt | rs36015961(C;C) |
| Reference | Rs36015961(T;T) |
| Significance | Other |
| Disease | Beta thalassemia intermedia HEMOGLOBIN BRESCIA HEMOGLOBIN DURHAM-N.C. |
| Variation | info |
| Gene | HBB |
| CLNDBN | Beta thalassemia intermedia HEMOGLOBIN BRESCIA HEMOGLOBIN DURHAM-N.C. |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246928A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016775.33, RCV000016776.9, RCV000016777.9, |
[PMID 8037185] Beta-thalassemia alleles and unstable hemoglobin types among Russian pediatric patients.
[PMID 8111050] A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype.
[PMID 11300352] A Korean family with a dominantly inherited beta-thalassemia due to Hb Durham-N.C./Brescia.
