rs34165323
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs34165323(A;G) |
| Make rs34165323(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226693 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34165323 |
| dbSNP (classic) | rs34165323 |
| ClinGen | rs34165323 |
| ebi | rs34165323 |
| HLI | rs34165323 |
| Exac | rs34165323 |
| Gnomad | rs34165323 |
| Varsome | rs34165323 |
| LitVar | rs34165323 |
| Map | rs34165323 |
| PheGenI | rs34165323 |
| Biobank | rs34165323 |
| 1000 genomes | rs34165323 |
| hgdp | rs34165323 |
| ensembl | rs34165323 |
| geneview | rs34165323 |
| scholar | rs34165323 |
| rs34165323 | |
| pharmgkb | rs34165323 |
| gwascentral | rs34165323 |
| openSNP | rs34165323 |
| 23andMe | rs34165323 |
| SNPshot | rs34165323 |
| SNPdbe | rs34165323 |
| MSV3d | rs34165323 |
| GWAS Ctlg | rs34165323 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34165323(G;G) |
| Alt | rs34165323(G;G) |
| Reference | Rs34165323(A;A) |
| Significance | Pathogenic |
| Disease | Hemoglobinopathy |
| Variation | info |
| Gene | HBB |
| CLNDBN | Hemoglobinopathy |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247923T>C |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016390.3, |
[PMID 5577462] Hemoglobin toulouse alpha 2 beta 2 66 (E 10) LysGlu. Structure and consequences in molecular pathology.
[PMID 5791730] Haemoglobin I toulouse: beta-66 (E 10) lys glu: a new abnormal haemoglobin with a mutation localized on the E 10 porphyrin surrounding zone.
[PMID 7928379] Hb I-Toulouse [beta 66(E10)Lys->Glu] in association with alpha-thalassemia.
