rs34823698
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs34823698(A;G) |
| Make rs34823698(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177038 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34823698 |
| dbSNP (classic) | rs34823698 |
| ClinGen | rs34823698 |
| ebi | rs34823698 |
| HLI | rs34823698 |
| Exac | rs34823698 |
| Gnomad | rs34823698 |
| Varsome | rs34823698 |
| LitVar | rs34823698 |
| Map | rs34823698 |
| PheGenI | rs34823698 |
| Biobank | rs34823698 |
| 1000 genomes | rs34823698 |
| hgdp | rs34823698 |
| ensembl | rs34823698 |
| geneview | rs34823698 |
| scholar | rs34823698 |
| rs34823698 | |
| pharmgkb | rs34823698 |
| gwascentral | rs34823698 |
| openSNP | rs34823698 |
| 23andMe | rs34823698 |
| SNPshot | rs34823698 |
| SNPdbe | rs34823698 |
| MSV3d | rs34823698 |
| GWAS Ctlg | rs34823698 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34823698(C;C) rs34823698(G;G) rs34823698(T;T) |
| Alt | rs34823698(C;C) rs34823698(G;G) rs34823698(T;T) |
| Reference | Rs34823698(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN UBE-2 |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN UBE-2 |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227037A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017176.2, |
[PMID 5416123] Studies on the function of abnormal hemoglobins. II. Oxygen equilibrium of abnormal hemoglobins: Shimonoseki, Ube II, Hikari, Gifu, and Agenogi.
[PMID 6035181] Amino acid substitution of hemoglobin Ube 2 (alpha-2 68asp beta-2): an example of successful application of partial hydrolysis of peptide with 5 per cent acetic acid.
[PMID 11939522] Hb Ube-2 in a Taiwanese subject: an A-->G substitution at codon 68 of the alpha2-globin gene.
[PMID 18473246] Hb Jeddah [alpha68(E17)Asn-->His (alpha1)]: a newly recognized alpha chain variant, seen in combination with Hb S [beta6(A3)Glu-->Val], and found in three separate families of middle eastern origin.
