rs33947457
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs33947457(A;A) |
| Make rs33947457(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226990 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33947457 |
| dbSNP (classic) | rs33947457 |
| ClinGen | rs33947457 |
| ebi | rs33947457 |
| HLI | rs33947457 |
| Exac | rs33947457 |
| Gnomad | rs33947457 |
| Varsome | rs33947457 |
| LitVar | rs33947457 |
| Map | rs33947457 |
| PheGenI | rs33947457 |
| Biobank | rs33947457 |
| 1000 genomes | rs33947457 |
| hgdp | rs33947457 |
| ensembl | rs33947457 |
| geneview | rs33947457 |
| scholar | rs33947457 |
| rs33947457 | |
| pharmgkb | rs33947457 |
| gwascentral | rs33947457 |
| openSNP | rs33947457 |
| 23andMe | rs33947457 |
| SNPshot | rs33947457 |
| SNPdbe | rs33947457 |
| MSV3d | rs33947457 |
| GWAS Ctlg | rs33947457 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33947457(A;A) rs33947457(T;T) |
| Alt | rs33947457(A;A) rs33947457(T;T) |
| Reference | Rs33947457(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN IRAQ-HALABJA HEMOGLOBIN ANKARA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN IRAQ-HALABJA HEMOGLOBIN ANKARA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248220G>A; NC_000011.9:g.5248220G>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016838.3, RCV000016250.3, |
[PMID 3957691] The survey of abnormal hemoglobins in the Kobe district: Hb G-Coushatta [beta 22(B4)Glu----Ala], Hb Ankara (beta 10(A7)Ala----Asp], Hb Handa [alpha 90(FG2)Lys----Met], and Hb J-Habana [alpha 71(E20)Ala----Glu].
[PMID 4850241] A new haemoglobin J from Turkey--Hb Ankara (beta10 (A7) Ala-Asp).
[PMID 10398311] Hb Iraq-Halabja beta10 (A7) Ala-->Val (GCC-->GTC): a new beta-chain silent variant in a family with multiple Hb disorders.
