rs33966761
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs33966761(A;A) |
| Make rs33966761(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225638 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33966761 |
| dbSNP (classic) | rs33966761 |
| ClinGen | rs33966761 |
| ebi | rs33966761 |
| HLI | rs33966761 |
| Exac | rs33966761 |
| Gnomad | rs33966761 |
| Varsome | rs33966761 |
| LitVar | rs33966761 |
| Map | rs33966761 |
| PheGenI | rs33966761 |
| Biobank | rs33966761 |
| 1000 genomes | rs33966761 |
| hgdp | rs33966761 |
| ensembl | rs33966761 |
| geneview | rs33966761 |
| scholar | rs33966761 |
| rs33966761 | |
| pharmgkb | rs33966761 |
| gwascentral | rs33966761 |
| openSNP | rs33966761 |
| 23andMe | rs33966761 |
| SNPshot | rs33966761 |
| SNPdbe | rs33966761 |
| MSV3d | rs33966761 |
| GWAS Ctlg | rs33966761 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33966761(A;A) rs33966761(C;C) rs33966761(G;G) |
| Alt | rs33966761(A;A) rs33966761(C;C) rs33966761(G;G) |
| Reference | Rs33966761(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN YAOUNDE Hemoglobinopathy |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN YAOUNDE Hemoglobinopathy |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246868A>G; NC_000011.9:g.5246868A>T |
| CLNSRC | OMIM Allelic Variant HBVAR UniProtKB (protein) |
| CLNACC | RCV000016855.2, RCV000016521.3, |
[PMID 199272] Haemoglobin North Shore, beta134 Val replaced by Glu, a new unstable haemoglobin.
[PMID 891976] Haemoglobin North Shore-Caracas beta 134 (H12) valine replaced by glutamic acid.
[PMID 3588028] A second Australian family with hemoglobin North Shore (beta 134 Val----Glu).
[PMID 6821704] Hemoglobin North Shore: a variant hemoglobin associated with the phenotype of beta-thalassemia.
[PMID 11300355] Hb Yaounde [beta134(H12)Val-->Ala], a new neutral variant found in association with Hb Kenitra.
[PMID 11523095] Identification and characterization by high-performance liquid chromatography/electrospray ionization mass spectrometry of a new variant hemoglobin, Mataro [beta134(H12) Val > Ala.
[PMID 15481891] Hb Yaounde [beta134(H12)Val-->Ala] in association with Hb C [beta6(A3)Glu-->Lys] in a Caucasian Portuguese family.
