rs33972894
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33972894(G;T) |
| Make rs33972894(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173555 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33972894 |
| dbSNP (classic) | rs33972894 |
| ClinGen | rs33972894 |
| ebi | rs33972894 |
| HLI | rs33972894 |
| Exac | rs33972894 |
| Gnomad | rs33972894 |
| Varsome | rs33972894 |
| LitVar | rs33972894 |
| Map | rs33972894 |
| PheGenI | rs33972894 |
| Biobank | rs33972894 |
| 1000 genomes | rs33972894 |
| hgdp | rs33972894 |
| ensembl | rs33972894 |
| geneview | rs33972894 |
| scholar | rs33972894 |
| rs33972894 | |
| pharmgkb | rs33972894 |
| gwascentral | rs33972894 |
| openSNP | rs33972894 |
| 23andMe | rs33972894 |
| SNPshot | rs33972894 |
| SNPdbe | rs33972894 |
| MSV3d | rs33972894 |
| GWAS Ctlg | rs33972894 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33972894(C;C) rs33972894(T;T) |
| Alt | rs33972894(C;C) rs33972894(T;T) |
| Reference | Rs33972894(G;G) |
| Significance | Untested |
| Disease | |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223554G>C; NC_000016.9:g.223554G>T |
| CLNSRC | |
| CLNACC | |
[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.
