rs33921821
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs33921821(A;A) |
| Make rs33921821(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225614 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33921821 |
| dbSNP (classic) | rs33921821 |
| ClinGen | rs33921821 |
| ebi | rs33921821 |
| HLI | rs33921821 |
| Exac | rs33921821 |
| Gnomad | rs33921821 |
| Varsome | rs33921821 |
| LitVar | rs33921821 |
| Map | rs33921821 |
| PheGenI | rs33921821 |
| Biobank | rs33921821 |
| 1000 genomes | rs33921821 |
| hgdp | rs33921821 |
| ensembl | rs33921821 |
| geneview | rs33921821 |
| scholar | rs33921821 |
| rs33921821 | |
| pharmgkb | rs33921821 |
| gwascentral | rs33921821 |
| openSNP | rs33921821 |
| 23andMe | rs33921821 |
| SNPshot | rs33921821 |
| SNPdbe | rs33921821 |
| MSV3d | rs33921821 |
| GWAS Ctlg | rs33921821 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33921821(A;A) rs33921821(T;T) |
| Alt | rs33921821(A;A) rs33921821(T;T) |
| Reference | Rs33921821(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN S (TRAVIS) HEMOGLOBIN OHIO |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN S (TRAVIS) HEMOGLOBIN OHIO |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246844G>A; NC_000011.9:g.5246844G>T |
| CLNSRC | OMIM Allelic Variant HBVAR UniProtKB (protein) |
| CLNACC | RCV000016580.6, RCV000016527.3, |
[PMID 7397380] Hemoglobin Ohio (beta 142 Ala replaced by): a new abnormal hemoglobin with high oxygen affinity and erythrocytosis.
[PMID 19257] Hemoglobin S Travis: a sickling hemoglobin with two amino acid substitutions [beta6(A3)glutamic acid leads to valine and beta142 (h20) alanine leads to valine).
