rs33919924
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs33919924(A;C) |
| Make rs33919924(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226734 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33919924 |
| dbSNP (classic) | rs33919924 |
| ClinGen | rs33919924 |
| ebi | rs33919924 |
| HLI | rs33919924 |
| Exac | rs33919924 |
| Gnomad | rs33919924 |
| Varsome | rs33919924 |
| LitVar | rs33919924 |
| Map | rs33919924 |
| PheGenI | rs33919924 |
| Biobank | rs33919924 |
| 1000 genomes | rs33919924 |
| hgdp | rs33919924 |
| ensembl | rs33919924 |
| geneview | rs33919924 |
| scholar | rs33919924 |
| rs33919924 | |
| pharmgkb | rs33919924 |
| gwascentral | rs33919924 |
| openSNP | rs33919924 |
| 23andMe | rs33919924 |
| SNPshot | rs33919924 |
| SNPdbe | rs33919924 |
| MSV3d | rs33919924 |
| GWAS Ctlg | rs33919924 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33919924(C;C) rs33919924(G;G) rs33919924(T;T) |
| Alt | rs33919924(C;C) rs33919924(G;G) rs33919924(T;T) |
| Reference | Rs33919924(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN HOKUSETSU HEMOGLOBIN OCHO RIOS |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN HOKUSETSU HEMOGLOBIN OCHO RIOS |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247964T>C; NC_000011.9:g.5247964T>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016825.2, RCV000016526.2, |
[PMID 5046622
] Haemoglobin Ocho Rios ( beta52 (D3) aspartic acid leads to alanine): a new beta-chain variant of haemoglobin A found in combination with haemoglobin S.
[PMID 9730366] A new hemoglobin variant found during Hb A1c measurement: Hb Hokusetsu [beta52(D3)Asp-->Gly].
