rs34527846
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs34527846(A;A) |
| Make rs34527846(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226802 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34527846 |
| dbSNP (classic) | rs34527846 |
| ClinGen | rs34527846 |
| ebi | rs34527846 |
| HLI | rs34527846 |
| Exac | rs34527846 |
| Gnomad | rs34527846 |
| Varsome | rs34527846 |
| LitVar | rs34527846 |
| Map | rs34527846 |
| PheGenI | rs34527846 |
| Biobank | rs34527846 |
| 1000 genomes | rs34527846 |
| hgdp | rs34527846 |
| ensembl | rs34527846 |
| geneview | rs34527846 |
| scholar | rs34527846 |
| rs34527846 | |
| pharmgkb | rs34527846 |
| gwascentral | rs34527846 |
| openSNP | rs34527846 |
| 23andMe | rs34527846 |
| SNPshot | rs34527846 |
| SNPdbe | rs34527846 |
| MSV3d | rs34527846 |
| GWAS Ctlg | rs34527846 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34527846(A;A) rs34527846(C;C) rs34527846(G;G) |
| Alt | rs34527846(A;A) rs34527846(C;C) rs34527846(G;G) |
| Reference | Rs34527846(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248032A>C |
| CLNSRC | ClinVar |
| CLNACC | RCV000030011.1, |
[PMID 1236816] [Electrophysiological studies of the forebrain-limbic inhibitory systems in relation to gonadotropin regulation (author's transl)].
[PMID 2920213] Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene.
[PMID 8435318] Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3' end TAG-->GAG in a Chinese patient.
[PMID 19254853] Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population.
[PMID 20437613] Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
[PMID 21119755
] Profiling beta-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes.
