rs34378160
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs34378160(C;C) |
| Make rs34378160(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226764 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34378160 |
| dbSNP (classic) | rs34378160 |
| ClinGen | rs34378160 |
| ebi | rs34378160 |
| HLI | rs34378160 |
| Exac | rs34378160 |
| Gnomad | rs34378160 |
| Varsome | rs34378160 |
| LitVar | rs34378160 |
| Map | rs34378160 |
| PheGenI | rs34378160 |
| Biobank | rs34378160 |
| 1000 genomes | rs34378160 |
| hgdp | rs34378160 |
| ensembl | rs34378160 |
| geneview | rs34378160 |
| scholar | rs34378160 |
| rs34378160 | |
| pharmgkb | rs34378160 |
| gwascentral | rs34378160 |
| openSNP | rs34378160 |
| 23andMe | rs34378160 |
| SNPshot | rs34378160 |
| SNPdbe | rs34378160 |
| MSV3d | rs34378160 |
| GWAS Ctlg | rs34378160 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34378160(C;C) rs34378160(G;G) |
| Alt | rs34378160(C;C) rs34378160(G;G) |
| Reference | Rs34378160(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN HAMMERSMITH HEMOGLOBIN CHIBA Heinz body anemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN HAMMERSMITH HEMOGLOBIN CHIBA Heinz body anemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247994A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016371.3, RCV000016372.3, RCV000016373.27, |
[PMID 1201210] The oxygen affinity of haemoglobin Hammersmith.
[PMID 1634359] The unstable Hb Hammersmith or alpha 2 beta 2(42)(CD1)Phe----Ser observed in an Indian child; identification by HPLC and by sequence analysis of amplified DNA.
[PMID 6082463] Haemoglobin Hammersmith (beta-42 (CDI) Phe replaced by ser).
[PMID 9856680] Hb Hammersmith [beta 42(CD1) Phe-->Ser]: occurrence as a de novo mutation in black monozygotic twins with multiple congenital anomalies.
