rs111033605
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs111033605(C;C) |
| Make rs111033605(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173003 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033605 |
| dbSNP (classic) | rs111033605 |
| ClinGen | rs111033605 |
| ebi | rs111033605 |
| HLI | rs111033605 |
| Exac | rs111033605 |
| Gnomad | rs111033605 |
| Varsome | rs111033605 |
| LitVar | rs111033605 |
| Map | rs111033605 |
| PheGenI | rs111033605 |
| Biobank | rs111033605 |
| 1000 genomes | rs111033605 |
| hgdp | rs111033605 |
| ensembl | rs111033605 |
| geneview | rs111033605 |
| scholar | rs111033605 |
| rs111033605 | |
| pharmgkb | rs111033605 |
| gwascentral | rs111033605 |
| openSNP | rs111033605 |
| 23andMe | rs111033605 |
| SNPshot | rs111033605 |
| SNPdbe | rs111033605 |
| MSV3d | rs111033605 |
| GWAS Ctlg | rs111033605 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033605(A;A) rs111033605(C;C) |
| Alt | rs111033605(A;A) rs111033605(C;C) |
| Reference | Rs111033605(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN G (HONOLULU) HEMOGLOBIN G (HONG KONG) HEMOGLOBIN G (SINGAPORE) HEMOGLOBIN G (CHINESE) |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN G (HONOLULU) HEMOGLOBIN G (HONG KONG) HEMOGLOBIN G (SINGAPORE) HEMOGLOBIN G (CHINESE) |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223002G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016963.2, RCV000016964.2, RCV000016965.2, RCV000016966.2, |
[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.
