rs33941849
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs33941849(C;C) |
| Make rs33941849(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5227020 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33941849 |
| dbSNP (classic) | rs33941849 |
| ClinGen | rs33941849 |
| ebi | rs33941849 |
| HLI | rs33941849 |
| Exac | rs33941849 |
| Gnomad | rs33941849 |
| Varsome | rs33941849 |
| LitVar | rs33941849 |
| Map | rs33941849 |
| PheGenI | rs33941849 |
| Biobank | rs33941849 |
| 1000 genomes | rs33941849 |
| hgdp | rs33941849 |
| ensembl | rs33941849 |
| geneview | rs33941849 |
| scholar | rs33941849 |
| rs33941849 | |
| pharmgkb | rs33941849 |
| gwascentral | rs33941849 |
| openSNP | rs33941849 |
| 23andMe | rs33941849 |
| SNPshot | rs33941849 |
| SNPdbe | rs33941849 |
| MSV3d | rs33941849 |
| GWAS Ctlg | rs33941849 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33941849(A;A) rs33941849(C;C) rs33941849(G;G) |
| Alt | rs33941849(A;A) rs33941849(C;C) rs33941849(G;G) |
| Reference | Rs33941849(T;T) |
| Significance | Other |
| Disease | beta^0^ Thalassemia Beta-thalassemia Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta^0^ Thalassemia Beta-thalassemia, lermontov type beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248250A>C; NC_000011.9:g.5248250A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016691.26, RCV000016692.27, RCV000016693.27, RCV000029976.2, |
[PMID 211197] Herpes simplex virus necleic acid synthesis following infection of non-permissive XC cells.
[PMID 9101288] beta-thalassemia mutations in Japanese and Koreans.
[PMID 10815781] Beta-thalassaemia in Cubans: novel allele increases the genetic diversity at the HBB locus in the Caribbean.
[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 19254853] Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population.
[PMID 2272840] An initiation codon mutation as a cause of a beta-thalassemia.
[PMID 1517111] A beta-thalassemia mutation found in Korea.
[PMID 2306523] A new single nucleotide change at the initiation codon (ATG----AGG) identified in amplified genomic DNA of a Chinese beta-thalassemic patient.
[PMID 16114187] A mutation of the beta-globin gene initiation codon, ATG-->AAG, found in a French Caucasian man.
