rs35328027
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs35328027(G;G) |
| Make rs35328027(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225872 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35328027 |
| dbSNP (classic) | rs35328027 |
| ClinGen | rs35328027 |
| ebi | rs35328027 |
| HLI | rs35328027 |
| Exac | rs35328027 |
| Gnomad | rs35328027 |
| Varsome | rs35328027 |
| LitVar | rs35328027 |
| Map | rs35328027 |
| PheGenI | rs35328027 |
| Biobank | rs35328027 |
| 1000 genomes | rs35328027 |
| hgdp | rs35328027 |
| ensembl | rs35328027 |
| geneview | rs35328027 |
| scholar | rs35328027 |
| rs35328027 | |
| pharmgkb | rs35328027 |
| gwascentral | rs35328027 |
| openSNP | rs35328027 |
| 23andMe | rs35328027 |
| SNPshot | rs35328027 |
| SNPdbe | rs35328027 |
| MSV3d | rs35328027 |
| GWAS Ctlg | rs35328027 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35328027(C;C) rs35328027(G;G) |
| Alt | rs35328027(C;C) rs35328027(G;G) |
| Reference | Rs35328027(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Beta thalassemia intermedia not specified |
| Variation | info |
| Gene | HBB |
| CLNDBN | Beta thalassemia intermedia not specified |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247102A>C; NC_000011.9:g.5247102A>G |
| CLNSRC | ClinVar |
| CLNACC | RCV000029979.1, RCV000251997.1, |
[PMID 6280138
] Five nucleotide changes in the large intervening sequence of a beta globin gene in a beta+ thalassemia patient.
[PMID 6298782] Abnormal splice in a mutant human beta-globin gene not at the site of a mutation.
[PMID 20704537] ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of beta-thalassaemia.
