rs63750783
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5.5 | Beta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependent |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226975 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750783 |
| dbSNP (classic) | rs63750783 |
| ClinGen | rs63750783 |
| ebi | rs63750783 |
| HLI | rs63750783 |
| Exac | rs63750783 |
| Gnomad | rs63750783 |
| Varsome | rs63750783 |
| LitVar | rs63750783 |
| Map | rs63750783 |
| PheGenI | rs63750783 |
| Biobank | rs63750783 |
| 1000 genomes | rs63750783 |
| hgdp | rs63750783 |
| ensembl | rs63750783 |
| geneview | rs63750783 |
| scholar | rs63750783 |
| rs63750783 | |
| pharmgkb | rs63750783 |
| gwascentral | rs63750783 |
| openSNP | rs63750783 |
| 23andMe | rs63750783 |
| SNPshot | rs63750783 |
| SNPdbe | rs63750783 |
| MSV3d | rs63750783 |
| GWAS Ctlg | rs63750783 |
| Max Magnitude | 5.5 |
| ClinVar | |
|---|---|
| Risk | Rs63750783(A;A) |
| Alt | Rs63750783(A;A) |
| Reference | Rs63750783(G;G) |
| Significance | Pathogenic |
| Disease | beta^0^ Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta^0^ Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248205C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016657.27, |
[PMID 2298457] Molecular basis of beta-thalassemia in Turkey: detection of rare mutations by direct sequencing.
[PMID 7668221] Hb Lulu Island (alpha 2 beta 2 107[G9]Gly-->Asp)-beta zero- thalassemia (codon 15; TGG-->TAG), a form of thalassemia intermedia.
