rs35871407
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs35871407(C;C) |
| Make rs35871407(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225707 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35871407 |
| dbSNP (classic) | rs35871407 |
| ClinGen | rs35871407 |
| ebi | rs35871407 |
| HLI | rs35871407 |
| Exac | rs35871407 |
| Gnomad | rs35871407 |
| Varsome | rs35871407 |
| LitVar | rs35871407 |
| Map | rs35871407 |
| PheGenI | rs35871407 |
| Biobank | rs35871407 |
| 1000 genomes | rs35871407 |
| hgdp | rs35871407 |
| ensembl | rs35871407 |
| geneview | rs35871407 |
| scholar | rs35871407 |
| rs35871407 | |
| pharmgkb | rs35871407 |
| gwascentral | rs35871407 |
| openSNP | rs35871407 |
| 23andMe | rs35871407 |
| SNPshot | rs35871407 |
| SNPdbe | rs35871407 |
| MSV3d | rs35871407 |
| GWAS Ctlg | rs35871407 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35871407(C;C) |
| Alt | rs35871407(C;C) |
| Reference | Rs35871407(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN STANMORE |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN STANMORE |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246937A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016607.3, |
[PMID 1917537] A new unstable and low oxygen affinity hemoglobin variant: Hb Stanmore [beta 111(G13)Val----Ala].
[PMID 12828994] First case of a single heterozygote of an abnormal hemoglobin, Hb Stanmore, [beta111(G13)Val-->Ala].
