rs33974228
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33974228(A;A) |
| Make rs33974228(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226988 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33974228 |
| dbSNP (classic) | rs33974228 |
| ClinGen | rs33974228 |
| ebi | rs33974228 |
| HLI | rs33974228 |
| Exac | rs33974228 |
| Gnomad | rs33974228 |
| Varsome | rs33974228 |
| LitVar | rs33974228 |
| Map | rs33974228 |
| PheGenI | rs33974228 |
| Biobank | rs33974228 |
| 1000 genomes | rs33974228 |
| hgdp | rs33974228 |
| ensembl | rs33974228 |
| geneview | rs33974228 |
| scholar | rs33974228 |
| rs33974228 | |
| pharmgkb | rs33974228 |
| gwascentral | rs33974228 |
| openSNP | rs33974228 |
| 23andMe | rs33974228 |
| SNPshot | rs33974228 |
| SNPdbe | rs33974228 |
| MSV3d | rs33974228 |
| GWAS Ctlg | rs33974228 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33974228(A;A) rs33974228(T;T) |
| Alt | rs33974228(A;A) rs33974228(T;T) |
| Reference | Rs33974228(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN WASHTENAW HEMOGLOBIN HAMILTON HEMOGLOBIN O (TIBESTI) |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN WASHTENAW HEMOGLOBIN HAMILTON HEMOGLOBIN O (TIBESTI) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248218C>A; NC_000011.9:g.5248218C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016800.2, RCV000016370.2, RCV000016863.2, |
[PMID 1428944] Hb H disease in association with the silent beta chain variant Hb Hamilton or alpha 2 beta 2(11)(A8)Val----Ile.
[PMID 1610915] Identification of Hb Hamilton or beta 11(A8)Val----Ile gene by the polymerase chain reaction amplification technique.
[PMID 6695908] Hemoglobin Hamilton or alpha 2 beta 2 11(A8)Val leads to Ile: a silent beta-chain variant detected by Triton X-100 acid-urea polyacrylamide gel electrophoresis.
