rs33944813
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs33944813(A;T) |
| Make rs33944813(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177102 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33944813 |
| dbSNP (classic) | rs33944813 |
| ClinGen | rs33944813 |
| ebi | rs33944813 |
| HLI | rs33944813 |
| Exac | rs33944813 |
| Gnomad | rs33944813 |
| Varsome | rs33944813 |
| LitVar | rs33944813 |
| Map | rs33944813 |
| PheGenI | rs33944813 |
| Biobank | rs33944813 |
| 1000 genomes | rs33944813 |
| hgdp | rs33944813 |
| ensembl | rs33944813 |
| geneview | rs33944813 |
| scholar | rs33944813 |
| rs33944813 | |
| pharmgkb | rs33944813 |
| gwascentral | rs33944813 |
| openSNP | rs33944813 |
| 23andMe | rs33944813 |
| SNPshot | rs33944813 |
| SNPdbe | rs33944813 |
| MSV3d | rs33944813 |
| GWAS Ctlg | rs33944813 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33944813(C;C) rs33944813(G;G) rs33944813(T;T) |
| Alt | rs33944813(C;C) rs33944813(G;G) rs33944813(T;T) |
| Reference | Rs33944813(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN TOKYO HEMOGLOBIN TAMANO HEMOGLOBIN LUTON |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN TOKYO HEMOGLOBIN TAMANO HEMOGLOBIN LUTON |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227101A>C; NC_000016.9:g.227101A>G; NC_000016.9:g.227101A>T |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000017233.2, RCV000017234.2, RCV000017192.2, |
[PMID 1486044] Polycythaemia and microcytosis arising from the combination of a new high oxygen affinity haemoglobin (Hb luton, alpha 89 His-->Leu) and alpha thalassaemia trait.
