rs33960522
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33960522(C;C) |
| Make rs33960522(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176987 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33960522 |
| dbSNP (classic) | rs33960522 |
| ClinGen | rs33960522 |
| ebi | rs33960522 |
| HLI | rs33960522 |
| Exac | rs33960522 |
| Gnomad | rs33960522 |
| Varsome | rs33960522 |
| LitVar | rs33960522 |
| Map | rs33960522 |
| PheGenI | rs33960522 |
| Biobank | rs33960522 |
| 1000 genomes | rs33960522 |
| hgdp | rs33960522 |
| ensembl | rs33960522 |
| geneview | rs33960522 |
| scholar | rs33960522 |
| rs33960522 | |
| pharmgkb | rs33960522 |
| gwascentral | rs33960522 |
| openSNP | rs33960522 |
| 23andMe | rs33960522 |
| SNPshot | rs33960522 |
| SNPdbe | rs33960522 |
| MSV3d | rs33960522 |
| GWAS Ctlg | rs33960522 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33960522(A;A) rs33960522(C;C) |
| Alt | rs33960522(A;A) rs33960522(C;C) |
| Reference | Rs33960522(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN RICCARTON HEMOGLOBIN RUSS |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN RICCARTON HEMOGLOBIN RUSS |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226986G>A; NC_000016.9:g.226986G>C |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017235.2, RCV000017147.2, |
[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.
[PMID 15768556] Hb riccarton [alpha51(CE9)Gly-->Ser]: a variant arising from a novel mutation in the alpha1 gene.
