rs34515413
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs34515413(A;A) |
| Make rs34515413(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226598 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34515413 |
| dbSNP (classic) | rs34515413 |
| ClinGen | rs34515413 |
| ebi | rs34515413 |
| HLI | rs34515413 |
| Exac | rs34515413 |
| Gnomad | rs34515413 |
| Varsome | rs34515413 |
| LitVar | rs34515413 |
| Map | rs34515413 |
| PheGenI | rs34515413 |
| Biobank | rs34515413 |
| 1000 genomes | rs34515413 |
| hgdp | rs34515413 |
| ensembl | rs34515413 |
| geneview | rs34515413 |
| scholar | rs34515413 |
| rs34515413 | |
| pharmgkb | rs34515413 |
| gwascentral | rs34515413 |
| openSNP | rs34515413 |
| 23andMe | rs34515413 |
| SNPshot | rs34515413 |
| SNPdbe | rs34515413 |
| MSV3d | rs34515413 |
| GWAS Ctlg | rs34515413 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34515413(A;A) rs34515413(G;G) rs34515413(T;T) |
| Alt | rs34515413(A;A) rs34515413(G;G) rs34515413(T;T) |
| Reference | Rs34515413(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN MALMO |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN MALMO |
| Reversed | 1 |
| HGVS | NC_000011.10:g.5226598G>Y |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016482.1, |
[PMID 36749] Comparison of hemoglobins Wood (alpha 2 beta 2 97 leu) and Malmo (alpha 2 beta 2 97 gln). Diagnostic value of citrate agar electrophoresis.
[PMID 1268084] A hypothesis for the increased oxygen affinity in haemoglobin Malmo.
[PMID 5011106
] Hemoglobin Malmo Beta-97 (FG-4) histidine--glutamine: a cause of polycythemia.
[PMID 8571935] Two different mutations in codon 97 of the beta-globin gene cause Hb Malmo in Sweden.
[PMID 8890707] Hb Malmo [beta-97(FG-4)His-->Gln] leading to polycythemia in a Dutch family.
