rs33972975
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| (GG;GG) | 0 | common in clinvar |
| Make rs33972975(C;C) |
| Make rs33972975(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226949 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33972975 |
| dbSNP (classic) | rs33972975 |
| ClinGen | rs33972975 |
| ebi | rs33972975 |
| HLI | rs33972975 |
| Exac | rs33972975 |
| Gnomad | rs33972975 |
| Varsome | rs33972975 |
| LitVar | rs33972975 |
| Map | rs33972975 |
| PheGenI | rs33972975 |
| Biobank | rs33972975 |
| 1000 genomes | rs33972975 |
| hgdp | rs33972975 |
| ensembl | rs33972975 |
| geneview | rs33972975 |
| scholar | rs33972975 |
| rs33972975 | |
| pharmgkb | rs33972975 |
| gwascentral | rs33972975 |
| openSNP | rs33972975 |
| 23andMe | rs33972975 |
| SNPshot | rs33972975 |
| SNPdbe | rs33972975 |
| MSV3d | rs33972975 |
| GWAS Ctlg | rs33972975 |
| Merged from | Rs121909817 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33972975(C;C) |
| Alt | rs33972975(C;C) |
| Reference | Rs33972975(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN RIVERDALE-BRONX |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN RIVERDALE-BRONX |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248179C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016567.2, |
[PMID 4724601] Control of human hemoglobin synthesis: translation of globin chains in heterozygotes with hemoglobin Riverdale-Bronx.
[PMID 5458024] Globin chain synthesis in heterozygotes for beta chain mutations.
[PMID 5705748] Hemoglobin Riverdale-Bronx an unstable hemoglobin resulting from the substitution of arginine for glycine at helical residue B6 of the B beta polypeptide chain.
