rs33964352
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs33964352(A;G) |
| Make rs33964352(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225609 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33964352 |
| dbSNP (classic) | rs33964352 |
| ClinGen | rs33964352 |
| ebi | rs33964352 |
| HLI | rs33964352 |
| Exac | rs33964352 |
| Gnomad | rs33964352 |
| Varsome | rs33964352 |
| LitVar | rs33964352 |
| Map | rs33964352 |
| PheGenI | rs33964352 |
| Biobank | rs33964352 |
| 1000 genomes | rs33964352 |
| hgdp | rs33964352 |
| ensembl | rs33964352 |
| geneview | rs33964352 |
| scholar | rs33964352 |
| rs33964352 | |
| pharmgkb | rs33964352 |
| gwascentral | rs33964352 |
| openSNP | rs33964352 |
| 23andMe | rs33964352 |
| SNPshot | rs33964352 |
| SNPdbe | rs33964352 |
| MSV3d | rs33964352 |
| GWAS Ctlg | rs33964352 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33964352(G;G) rs33964352(T;T) |
| Alt | rs33964352(G;G) rs33964352(T;T) |
| Reference | Rs33964352(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN KOCHI HEMOGLOBIN MITO |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN KOCHI HEMOGLOBIN MITO |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246839T>A; NC_000011.9:g.5246839T>C |
| CLNSRC | OMIM Allelic Variant HBVAR UniProtKB (protein) |
| CLNACC | RCV000016884.2, RCV000016493.2, |
[PMID 21077764] Hb Cambridge-MA [beta144(HC1)-beta146(HC3)Lys-Tyr-His-->0 (HBB c.433 A>T)]: a new high oxygen affinity variant.
