rs33980484
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs33980484(A;C) |
| Make rs33980484(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226749 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33980484 |
| dbSNP (classic) | rs33980484 |
| ClinGen | rs33980484 |
| ebi | rs33980484 |
| HLI | rs33980484 |
| Exac | rs33980484 |
| Gnomad | rs33980484 |
| Varsome | rs33980484 |
| LitVar | rs33980484 |
| Map | rs33980484 |
| PheGenI | rs33980484 |
| Biobank | rs33980484 |
| 1000 genomes | rs33980484 |
| hgdp | rs33980484 |
| ensembl | rs33980484 |
| geneview | rs33980484 |
| scholar | rs33980484 |
| rs33980484 | |
| pharmgkb | rs33980484 |
| gwascentral | rs33980484 |
| openSNP | rs33980484 |
| 23andMe | rs33980484 |
| SNPshot | rs33980484 |
| SNPdbe | rs33980484 |
| MSV3d | rs33980484 |
| GWAS Ctlg | rs33980484 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33980484(C;C) rs33980484(G;G) rs33980484(T;T) |
| Alt | rs33980484(C;C) rs33980484(G;G) rs33980484(T;T) |
| Reference | Rs33980484(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN GAVELLO HEMOGLOBIN AVICENNA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN GAVELLO HEMOGLOBIN AVICENNA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247979T>C; NC_000011.9:g.5247979T>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016359.2, RCV000016257.3, |
[PMID 604315] Hemoglobin Gavello - alpha 2 beta 2 47 (CD6) Asp replaced by Gly. A new hemoglobin variant from Polesine (Italy).
[PMID 427203] Haemoglobin Avicenna (beta 47 (CD6) Asp replaced by Ala). A new abnormal haemoglobin.
[PMID 12368168] Identification and functional characterization of a new hemoglobin variant in Sardinia: Hb Muravera [beta47 GAT->GTT, (CD6) Asp->Val].
