rs33996892
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (AG;AG) | 0 | common in clinvar |
| Make rs33996892(A;T) |
| Make rs33996892(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225608 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33996892 |
| dbSNP (classic) | rs33996892 |
| ClinGen | rs33996892 |
| ebi | rs33996892 |
| HLI | rs33996892 |
| Exac | rs33996892 |
| Gnomad | rs33996892 |
| Varsome | rs33996892 |
| LitVar | rs33996892 |
| Map | rs33996892 |
| PheGenI | rs33996892 |
| Biobank | rs33996892 |
| 1000 genomes | rs33996892 |
| hgdp | rs33996892 |
| ensembl | rs33996892 |
| geneview | rs33996892 |
| scholar | rs33996892 |
| rs33996892 | |
| pharmgkb | rs33996892 |
| gwascentral | rs33996892 |
| openSNP | rs33996892 |
| 23andMe | rs33996892 |
| SNPshot | rs33996892 |
| SNPdbe | rs33996892 |
| MSV3d | rs33996892 |
| GWAS Ctlg | rs33996892 |
| Merged from | Rs121909829 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33996892(T;T) |
| Alt | rs33996892(T;T) |
| Reference | Rs33996892(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN BARBIZON |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN BARBIZON |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246838T>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016843.2, |
[PMID 10081983] Two hemoglobin variants with an alteration of the oxygen-linked chloride binding: Hb Antananarivo [alpha1(NA1)Val-->Gly] and Hb Barbizon [beta144(HC1)Lys-->Met].
