rs34831026
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs34831026(A;A) |
| Make rs34831026(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5226770 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34831026 |
| dbSNP (classic) | rs34831026 |
| ClinGen | rs34831026 |
| ebi | rs34831026 |
| HLI | rs34831026 |
| Exac | rs34831026 |
| Gnomad | rs34831026 |
| Varsome | rs34831026 |
| LitVar | rs34831026 |
| Map | rs34831026 |
| PheGenI | rs34831026 |
| Biobank | rs34831026 |
| 1000 genomes | rs34831026 |
| hgdp | rs34831026 |
| ensembl | rs34831026 |
| geneview | rs34831026 |
| scholar | rs34831026 |
| rs34831026 | |
| pharmgkb | rs34831026 |
| gwascentral | rs34831026 |
| openSNP | rs34831026 |
| 23andMe | rs34831026 |
| SNPshot | rs34831026 |
| SNPdbe | rs34831026 |
| MSV3d | rs34831026 |
| GWAS Ctlg | rs34831026 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34831026(A;A) rs34831026(T;T) |
| Alt | rs34831026(A;A) rs34831026(T;T) |
| Reference | Rs34831026(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN ATHENS-GEORGIA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN ATHENS-GEORGIA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248000C>T |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016252.4, |
[PMID 8114] Hemoglobin Athens-Georgia, or alpha 2 beta 2 40(C6)Arg replaced by Lys, a hemoglobin variant with an increased oxygen affinity.
[PMID 14597] Hemoglobins Austin and Waco: two hemoglobins with substitutions in the alpha 1 beta 2 contact region.
