rs35256489
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs35256489(C;C) |
| Make rs35256489(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5225710 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35256489 |
| dbSNP (classic) | rs35256489 |
| ClinGen | rs35256489 |
| ebi | rs35256489 |
| HLI | rs35256489 |
| Exac | rs35256489 |
| Gnomad | rs35256489 |
| Varsome | rs35256489 |
| LitVar | rs35256489 |
| Map | rs35256489 |
| PheGenI | rs35256489 |
| Biobank | rs35256489 |
| 1000 genomes | rs35256489 |
| hgdp | rs35256489 |
| ensembl | rs35256489 |
| geneview | rs35256489 |
| scholar | rs35256489 |
| rs35256489 | |
| pharmgkb | rs35256489 |
| gwascentral | rs35256489 |
| openSNP | rs35256489 |
| 23andMe | rs35256489 |
| SNPshot | rs35256489 |
| SNPdbe | rs35256489 |
| MSV3d | rs35256489 |
| GWAS Ctlg | rs35256489 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35256489(C;C) |
| Alt | rs35256489(C;C) |
| Reference | Rs35256489(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN SHOWA-YAKUSHIJI Beta-plus-thalassemia Beta-showa-yakushiji thalassemia Beta thalassemia major |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN SHOWA-YAKUSHIJI Beta-plus-thalassemia Beta-showa-yakushiji thalassemia Beta thalassemia major |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246940A>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016598.2, RCV000016599.26, RCV000016600.26, RCV000029991.1, |
[PMID 2822177] A novel globin structural mutant, Showa-Yakushiji (beta 110 Leu-Pro) causing a beta-thalassemia phenotype.
[PMID 3417300] A substitution of cytosine for thymine in codon 110 of the human beta-globin gene is a novel cause of beta-thalassemia phenotypes.
[PMID 9101288] beta-thalassemia mutations in Japanese and Koreans.
[PMID 12709369] Rapid detection of beta-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis.
[PMID 18294253] Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity.
[PMID 20437613] Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
[PMID 2634667] Characterization of beta-thalassemia mutations among the Japanese.
