rs33993166
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33993166(C;C) |
| Make rs33993166(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176807 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33993166 |
| dbSNP (classic) | rs33993166 |
| ClinGen | rs33993166 |
| ebi | rs33993166 |
| HLI | rs33993166 |
| Exac | rs33993166 |
| Gnomad | rs33993166 |
| Varsome | rs33993166 |
| LitVar | rs33993166 |
| Map | rs33993166 |
| PheGenI | rs33993166 |
| Biobank | rs33993166 |
| 1000 genomes | rs33993166 |
| hgdp | rs33993166 |
| ensembl | rs33993166 |
| geneview | rs33993166 |
| scholar | rs33993166 |
| rs33993166 | |
| pharmgkb | rs33993166 |
| gwascentral | rs33993166 |
| openSNP | rs33993166 |
| 23andMe | rs33993166 |
| SNPshot | rs33993166 |
| SNPdbe | rs33993166 |
| MSV3d | rs33993166 |
| GWAS Ctlg | rs33993166 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33993166(A;A) rs33993166(C;C) |
| Alt | rs33993166(A;A) rs33993166(C;C) |
| Reference | Rs33993166(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN O (PADOVA) |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN O (PADOVA) |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226806G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017132.2, |
[PMID 2117321] Hb O Padova in a Spanish Family.
[PMID 2869010] Hemoglobin O-Padova or alpha(2)30(B11)Glu----Lys beta 2 observed in members of a Turkish family.
[PMID 4429803] A new abnormal hemoglobin O Padova, alpha 30 (B11) Glu -- Lys, and a dyserythropoietic anemia with erythroblastic multinuclearity coexisting in the same patient.
[PMID 6866546] Association between Hb O Padova [alpha 30 (B 11) Glu leads to Lys] and Rendu-Osler disease.
[PMID 9215129
] Haemoglobin O Padova and falsely low haemoglobin A1c in a patient with type I diabetes.
[PMID 10868862] Evaluation of HbA1c determination methods in patients with hemoglobinopathies.
[PMID 12195002] Silent haemoglobin variants and determination of HbA(1c) with the HPLC Bio-Rad Variant II.
[PMID 5081025] Hemoglobin G Chinese in Chinese subjects in Taiwan.
[PMID 6238696] [A case of HbG Chinese found in Henan].
[PMID 11939521] Hb G-Chinese: a G-->C substitution at codon 30 of the alpha2-globin gene creates a PstI cutting site.
[PMID 12403500] Hb G-Honolulu [alpha30(B11)Glu-->Gln (alpha2)], Hb J-Meinung [beta56(D7)Gly-->Asp], and beta-thalassemia [codons 41/42 (-TCTT)] in a Taiwanese family.
