rs33929459
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33929459(A;A) |
| Make rs33929459(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226952 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33929459 |
| dbSNP (classic) | rs33929459 |
| ClinGen | rs33929459 |
| ebi | rs33929459 |
| HLI | rs33929459 |
| Exac | rs33929459 |
| Gnomad | rs33929459 |
| Varsome | rs33929459 |
| LitVar | rs33929459 |
| Map | rs33929459 |
| PheGenI | rs33929459 |
| Biobank | rs33929459 |
| 1000 genomes | rs33929459 |
| hgdp | rs33929459 |
| ensembl | rs33929459 |
| geneview | rs33929459 |
| scholar | rs33929459 |
| rs33929459 | |
| pharmgkb | rs33929459 |
| gwascentral | rs33929459 |
| openSNP | rs33929459 |
| 23andMe | rs33929459 |
| SNPshot | rs33929459 |
| SNPdbe | rs33929459 |
| MSV3d | rs33929459 |
| GWAS Ctlg | rs33929459 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33929459(A;A) rs33929459(T;T) |
| Alt | rs33929459(A;A) rs33929459(T;T) |
| Reference | Rs33929459(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN PALMERSTON NORTH HEMOGLOBIN S (ANTILLES) |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN PALMERSTON NORTH HEMOGLOBIN S (ANTILLES) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248182C>A; NC_000011.9:g.5248182C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016544.2, RCV000016576.5, |
[PMID 7161106] Hemoglobin Palmerston North beta 23 (B5) Val replaced by Phe. A new variant identified in a patient with polycythemia.
