rs34407387
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs34407387(A;C) |
| Make rs34407387(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225623 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34407387 |
| dbSNP (classic) | rs34407387 |
| ClinGen | rs34407387 |
| ebi | rs34407387 |
| HLI | rs34407387 |
| Exac | rs34407387 |
| Gnomad | rs34407387 |
| Varsome | rs34407387 |
| LitVar | rs34407387 |
| Map | rs34407387 |
| PheGenI | rs34407387 |
| Biobank | rs34407387 |
| 1000 genomes | rs34407387 |
| hgdp | rs34407387 |
| ensembl | rs34407387 |
| geneview | rs34407387 |
| scholar | rs34407387 |
| rs34407387 | |
| pharmgkb | rs34407387 |
| gwascentral | rs34407387 |
| openSNP | rs34407387 |
| 23andMe | rs34407387 |
| SNPshot | rs34407387 |
| SNPdbe | rs34407387 |
| MSV3d | rs34407387 |
| GWAS Ctlg | rs34407387 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34407387(C;C) |
| Alt | rs34407387(C;C) |
| Reference | Rs34407387(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN SAGAMI |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN SAGAMI |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246853T>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016840.2, |
[PMID 9654755] Hb Sagami [beta 139(H17)Asn-->Thr]: a new hemoglobin variant not detected by isoelectrofocusing and propan-2-ol test, was detected by electrospray ionization mass spectrometry.
[PMID 10490140] Compound heterozygosity for beta(+)-thalassemia [-31 (A-->G)] and a new variant with low oxygen affinity, Hb Sagami [beta139(H17)Asn-->Thr].
