rs33964623
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs33964623(A;C) |
| Make rs33964623(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177068 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33964623 |
| dbSNP (classic) | rs33964623 |
| ClinGen | rs33964623 |
| ebi | rs33964623 |
| HLI | rs33964623 |
| Exac | rs33964623 |
| Gnomad | rs33964623 |
| Varsome | rs33964623 |
| LitVar | rs33964623 |
| Map | rs33964623 |
| PheGenI | rs33964623 |
| Biobank | rs33964623 |
| 1000 genomes | rs33964623 |
| hgdp | rs33964623 |
| ensembl | rs33964623 |
| geneview | rs33964623 |
| scholar | rs33964623 |
| rs33964623 | |
| pharmgkb | rs33964623 |
| gwascentral | rs33964623 |
| openSNP | rs33964623 |
| 23andMe | rs33964623 |
| SNPshot | rs33964623 |
| SNPdbe | rs33964623 |
| MSV3d | rs33964623 |
| GWAS Ctlg | rs33964623 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33964623(C;C) rs33964623(G;G) |
| Alt | rs33964623(C;C) rs33964623(G;G) |
| Reference | Rs33964623(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN J (SINGA) HEMOGLOBIN J (SINGAPORE) |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN J (SINGA) HEMOGLOBIN J (SINGAPORE) |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227067A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017072.2, RCV000017073.2, |
[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).
[PMID 2101836] Hb Davenport or alpha 2(78)(EF7)Asn----His beta 2.
[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.
