rs63749865
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs63749865(C;C) |
| Make rs63749865(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177366 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63749865 |
| dbSNP (classic) | rs63749865 |
| ClinGen | rs63749865 |
| ebi | rs63749865 |
| HLI | rs63749865 |
| Exac | rs63749865 |
| Gnomad | rs63749865 |
| Varsome | rs63749865 |
| LitVar | rs63749865 |
| Map | rs63749865 |
| PheGenI | rs63749865 |
| Biobank | rs63749865 |
| 1000 genomes | rs63749865 |
| hgdp | rs63749865 |
| ensembl | rs63749865 |
| geneview | rs63749865 |
| scholar | rs63749865 |
| rs63749865 | |
| pharmgkb | rs63749865 |
| gwascentral | rs63749865 |
| openSNP | rs63749865 |
| 23andMe | rs63749865 |
| SNPshot | rs63749865 |
| SNPdbe | rs63749865 |
| MSV3d | rs63749865 |
| GWAS Ctlg | rs63749865 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63749865(C;C) rs63749865(T;T) |
| Alt | rs63749865(C;C) rs63749865(T;T) |
| Reference | Rs63749865(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN JACKSON |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN JACKSON |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227365G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017077.2, |
[PMID 949045] Hemoglobin Jackson, alpha 127 (H10) Lys replaced by Asn.
[PMID 6655018] Identification of the alpha chain abnormal hemoglobin Jackson (alpha 127 Lys leads to Asn) after isolation of the core peptide by high-performance liquid chromatography.
