rs33978082
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs33978082(A;A) |
| Make rs33978082(A;T) |
| Make rs33978082(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225692 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33978082 |
| dbSNP (classic) | rs33978082 |
| ClinGen | rs33978082 |
| ebi | rs33978082 |
| HLI | rs33978082 |
| Exac | rs33978082 |
| Gnomad | rs33978082 |
| Varsome | rs33978082 |
| LitVar | rs33978082 |
| Map | rs33978082 |
| PheGenI | rs33978082 |
| Biobank | rs33978082 |
| 1000 genomes | rs33978082 |
| hgdp | rs33978082 |
| ensembl | rs33978082 |
| geneview | rs33978082 |
| scholar | rs33978082 |
| rs33978082 | |
| pharmgkb | rs33978082 |
| gwascentral | rs33978082 |
| openSNP | rs33978082 |
| 23andMe | rs33978082 |
| SNPshot | rs33978082 |
| SNPdbe | rs33978082 |
| MSV3d | rs33978082 |
| GWAS Ctlg | rs33978082 |
| Merged from | Rs111033582 |
| Max Magnitude | 0 |
[PMID 12908805] Two new hemoglobin variants with increased oxygen affinity: Hb Nantes [beta34(B16)Val-->Leu] and Hb Vexin [beta116(G18)His-->Leu].
| ClinVar | |
|---|---|
| Risk | rs33978082(C;C) rs33978082(G;G) rs33978082(T;T) |
| Alt | rs33978082(C;C) rs33978082(G;G) rs33978082(T;T) |
| Reference | rs33978082(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN P HEMOGLOBIN P (GALVESTON) HEMOGLOBIN SAITAMA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN P HEMOGLOBIN P (GALVESTON) HEMOGLOBIN SAITAMA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246922T>C; NC_000011.9:g.5246922T>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016538.3, RCV000016539.3, RCV000016583.2, |
