rs34204059
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs34204059(A;A) |
| Make rs34204059(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177329 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34204059 |
| dbSNP (classic) | rs34204059 |
| ClinGen | rs34204059 |
| ebi | rs34204059 |
| HLI | rs34204059 |
| Exac | rs34204059 |
| Gnomad | rs34204059 |
| Varsome | rs34204059 |
| LitVar | rs34204059 |
| Map | rs34204059 |
| PheGenI | rs34204059 |
| Biobank | rs34204059 |
| 1000 genomes | rs34204059 |
| hgdp | rs34204059 |
| ensembl | rs34204059 |
| geneview | rs34204059 |
| scholar | rs34204059 |
| rs34204059 | |
| pharmgkb | rs34204059 |
| gwascentral | rs34204059 |
| openSNP | rs34204059 |
| 23andMe | rs34204059 |
| SNPshot | rs34204059 |
| SNPdbe | rs34204059 |
| MSV3d | rs34204059 |
| GWAS Ctlg | rs34204059 |
| Merged from | Rs63750290 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34204059(A;A) rs34204059(T;T) |
| Alt | rs34204059(A;A) rs34204059(T;T) |
| Reference | Rs34204059(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN J (TONGARIKI) |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN J (TONGARIKI) |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227328C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017075.2, |
[PMID 652041] Haemoglobin J Tongariki is associated with alpha thalassaemia.
[PMID 5427353] Homozygous Hb J Tongariki: evidence for only one alpha chain structural locus in Melanesians.
