rs1135071
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1135071(G;T) |
| Make rs1135071(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226799 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1135071 |
| dbSNP (classic) | rs1135071 |
| ClinGen | rs1135071 |
| ebi | rs1135071 |
| HLI | rs1135071 |
| Exac | rs1135071 |
| Gnomad | rs1135071 |
| Varsome | rs1135071 |
| LitVar | rs1135071 |
| Map | rs1135071 |
| PheGenI | rs1135071 |
| Biobank | rs1135071 |
| 1000 genomes | rs1135071 |
| hgdp | rs1135071 |
| ensembl | rs1135071 |
| geneview | rs1135071 |
| scholar | rs1135071 |
| rs1135071 | |
| pharmgkb | rs1135071 |
| gwascentral | rs1135071 |
| openSNP | rs1135071 |
| 23andMe | rs1135071 |
| SNPshot | rs1135071 |
| SNPdbe | rs1135071 |
| MSV3d | rs1135071 |
| GWAS Ctlg | rs1135071 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1135071(C;C) rs1135071(T;T) |
| Alt | rs1135071(C;C) rs1135071(T;T) |
| Reference | Rs1135071(G;G) |
| Significance | Pathogenic |
| Disease | not specified Heinz body anemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | not specified Heinz body anemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248029C>A |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016619.4, RCV000016620.27, |
[PMID 5785231] Structural characterization of hemoglobin Tacoma.
[PMID 5869485] Hemoglobin tacoma--a beta-chain variant associated with increased hb A2.
[PMID 8226093] Rare beta chain hemoglobin variants found in Swedish patients during HBA1c analysis.
[PMID 9140720] A significant beta-thalassemia heterogeneity in the United Arab Emirates.
