rs111033602
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs111033602(A;C) |
| Make rs111033602(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173264 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033602 |
| dbSNP (classic) | rs111033602 |
| ClinGen | rs111033602 |
| ebi | rs111033602 |
| HLI | rs111033602 |
| Exac | rs111033602 |
| Gnomad | rs111033602 |
| Varsome | rs111033602 |
| LitVar | rs111033602 |
| Map | rs111033602 |
| PheGenI | rs111033602 |
| Biobank | rs111033602 |
| 1000 genomes | rs111033602 |
| hgdp | rs111033602 |
| ensembl | rs111033602 |
| geneview | rs111033602 |
| scholar | rs111033602 |
| rs111033602 | |
| pharmgkb | rs111033602 |
| gwascentral | rs111033602 |
| openSNP | rs111033602 |
| 23andMe | rs111033602 |
| SNPshot | rs111033602 |
| SNPdbe | rs111033602 |
| MSV3d | rs111033602 |
| GWAS Ctlg | rs111033602 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033602(C;C) rs111033602(G;G) |
| Alt | rs111033602(C;C) rs111033602(G;G) |
| Reference | Rs111033602(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN DAVENPORT |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN DAVENPORT |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223263A>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016928.1, |
[PMID 6691995] Hb J-Singa (alpha-78 Asn leads to Asp), a newly discovered hemoglobin variant with the same amino acid substitution as one of the two present in Hb J-Singapore (alpha-78 Asn leads to, alpha-79 Ala leads to Gly).
