rs33983416
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs33983416(C;T) |
| Make rs33983416(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173295 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33983416 |
| dbSNP (classic) | rs33983416 |
| ClinGen | rs33983416 |
| ebi | rs33983416 |
| HLI | rs33983416 |
| Exac | rs33983416 |
| Gnomad | rs33983416 |
| Varsome | rs33983416 |
| LitVar | rs33983416 |
| Map | rs33983416 |
| PheGenI | rs33983416 |
| Biobank | rs33983416 |
| 1000 genomes | rs33983416 |
| hgdp | rs33983416 |
| ensembl | rs33983416 |
| geneview | rs33983416 |
| scholar | rs33983416 |
| rs33983416 | |
| pharmgkb | rs33983416 |
| gwascentral | rs33983416 |
| openSNP | rs33983416 |
| 23andMe | rs33983416 |
| SNPshot | rs33983416 |
| SNPdbe | rs33983416 |
| MSV3d | rs33983416 |
| GWAS Ctlg | rs33983416 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33983416(A;A) rs33983416(G;G) rs33983416(T;T) |
| Alt | rs33983416(A;A) rs33983416(G;G) rs33983416(T;T) |
| Reference | Rs33983416(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN COLUMBIA MISSOURI |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN COLUMBIA MISSOURI |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223294C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016895.1, |
[PMID 1988759] Hemoglobin Columbia Missouri or alpha 2[88 (F9) Ala----Val]beta 2: a new high-oxygen-affinity hemoglobin that causes erythrocytosis.
[PMID 7852082] The use of Staphylococcus V8 protease in the structural determination of human hemoglobin variants: HB Valparaiso [alpha 88(F9)Ala-->Gly] example.
