rs34502690
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (AGG;AGG) | 1 | conflicting information |
| (D;D) | 0 | very common |
| Make rs34502690(-;AGG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225657 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34502690 |
| dbSNP (classic) | rs34502690 |
| ClinGen | rs34502690 |
| ebi | rs34502690 |
| HLI | rs34502690 |
| Exac | rs34502690 |
| Gnomad | rs34502690 |
| Varsome | rs34502690 |
| LitVar | rs34502690 |
| Map | rs34502690 |
| PheGenI | rs34502690 |
| Biobank | rs34502690 |
| 1000 genomes | rs34502690 |
| hgdp | rs34502690 |
| ensembl | rs34502690 |
| geneview | rs34502690 |
| scholar | rs34502690 |
| rs34502690 | |
| pharmgkb | rs34502690 |
| gwascentral | rs34502690 |
| openSNP | rs34502690 |
| 23andMe | rs34502690 |
| SNPshot | rs34502690 |
| SNPdbe | rs34502690 |
| MSV3d | rs34502690 |
| GWAS Ctlg | rs34502690 |
| Max Magnitude | 1 |
| ClinVar | |
|---|---|
| Risk | Rs34502690(-;-) |
| Alt | Rs34502690(-;-) |
| Reference | Rs34502690(AGG;AGG) |
| Significance | Pathogenic |
| Disease | Beta-plus-thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | Beta-plus-thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246887_5246889delCCT |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016665.26, |
[PMID 2224139] Three-base deletion in exon 3 of the beta-globin gene produced a novel variant (beta gunma) with a thalassemia-like phenotype.
[PMID 2634667] Characterization of beta-thalassemia mutations among the Japanese.
[PMID 9101288] beta-thalassemia mutations in Japanese and Koreans.
