rs35939489
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs35939489(A;C) |
| Make rs35939489(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226692 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35939489 |
| dbSNP (classic) | rs35939489 |
| ClinGen | rs35939489 |
| ebi | rs35939489 |
| HLI | rs35939489 |
| Exac | rs35939489 |
| Gnomad | rs35939489 |
| Varsome | rs35939489 |
| LitVar | rs35939489 |
| Map | rs35939489 |
| PheGenI | rs35939489 |
| Biobank | rs35939489 |
| 1000 genomes | rs35939489 |
| hgdp | rs35939489 |
| ensembl | rs35939489 |
| geneview | rs35939489 |
| scholar | rs35939489 |
| rs35939489 | |
| pharmgkb | rs35939489 |
| gwascentral | rs35939489 |
| openSNP | rs35939489 |
| 23andMe | rs35939489 |
| SNPshot | rs35939489 |
| SNPdbe | rs35939489 |
| MSV3d | rs35939489 |
| GWAS Ctlg | rs35939489 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35939489(C;C) |
| Alt | rs35939489(C;C) |
| Reference | Rs35939489(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN CHICO |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN CHICO |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247922T>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016299.2, |
[PMID 3429244] Hemoglobin Chico [beta 66(E10)Lys----Thr]: a new variant with decreased oxygen affinity.
[PMID 10085107] Altered ligand rebinding kinetics due to distal-side effects in hemoglobin chico (Lysbeta66(E10) --> thr).
