rs33932548
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs33932548(A;T) |
| Make rs33932548(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226695 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33932548 |
| dbSNP (classic) | rs33932548 |
| ClinGen | rs33932548 |
| ebi | rs33932548 |
| HLI | rs33932548 |
| Exac | rs33932548 |
| Gnomad | rs33932548 |
| Varsome | rs33932548 |
| LitVar | rs33932548 |
| Map | rs33932548 |
| PheGenI | rs33932548 |
| Biobank | rs33932548 |
| 1000 genomes | rs33932548 |
| hgdp | rs33932548 |
| ensembl | rs33932548 |
| geneview | rs33932548 |
| scholar | rs33932548 |
| rs33932548 | |
| pharmgkb | rs33932548 |
| gwascentral | rs33932548 |
| openSNP | rs33932548 |
| 23andMe | rs33932548 |
| SNPshot | rs33932548 |
| SNPdbe | rs33932548 |
| MSV3d | rs33932548 |
| GWAS Ctlg | rs33932548 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33932548(T;T) |
| Alt | rs33932548(T;T) |
| Reference | Rs33932548(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN J (ANTAKYA) HEMOGLOBIN CASABLANCA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN J (ANTAKYA) HEMOGLOBIN CASABLANCA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247925T>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016398.3, RCV000016848.2, |
[PMID 3707969] Hb J-Antakya or alpha 2 beta (2)65(E9)Lys----Met in a Turkish family and Hb complutense or alpha 2 beta (2)127(H5)Gln----Glu in a Spanish family; correction of a previously published identification.
