rs35703285
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs35703285(G;G) |
| Make rs35703285(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225740 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35703285 |
| dbSNP (classic) | rs35703285 |
| ClinGen | rs35703285 |
| ebi | rs35703285 |
| HLI | rs35703285 |
| Exac | rs35703285 |
| Gnomad | rs35703285 |
| Varsome | rs35703285 |
| LitVar | rs35703285 |
| Map | rs35703285 |
| PheGenI | rs35703285 |
| Biobank | rs35703285 |
| 1000 genomes | rs35703285 |
| hgdp | rs35703285 |
| ensembl | rs35703285 |
| geneview | rs35703285 |
| scholar | rs35703285 |
| rs35703285 | |
| pharmgkb | rs35703285 |
| gwascentral | rs35703285 |
| openSNP | rs35703285 |
| 23andMe | rs35703285 |
| SNPshot | rs35703285 |
| SNPdbe | rs35703285 |
| MSV3d | rs35703285 |
| GWAS Ctlg | rs35703285 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35703285(G;G) |
| Alt | rs35703285(G;G) |
| Reference | Rs35703285(T;T) |
| Significance | Pathogenic |
| Disease | Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246970A>C |
| CLNSRC | ClinVar |
| CLNACC | RCV000029980.1, |
[PMID 12709] ["Enzymology" Commission: recommendations for the measurement of the catalytic activity of aspartate aminotransferase in serum at 30degreesC (Document b stage 3)].
[PMID 15933066
] Patients with thalassemia in the United States.
[PMID 18294253] Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity.
[PMID 19205975] Hematological and molecular analysis of novel and rare beta-thalassemia mutations in the Indian population.
[PMID 20230396] Epidemiology of beta-thalassaemia in Western India: mapping the frequencies and mutations in sub-regions of Maharashtra and Gujarat.
[PMID 20437613] Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
[PMID 1772786] Rare beta-thalassaemia mutations in Asian indians.
