rs34387455
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs34387455(A;G) |
| Make rs34387455(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226999 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34387455 |
| dbSNP (classic) | rs34387455 |
| ClinGen | rs34387455 |
| ebi | rs34387455 |
| HLI | rs34387455 |
| Exac | rs34387455 |
| Gnomad | rs34387455 |
| Varsome | rs34387455 |
| LitVar | rs34387455 |
| Map | rs34387455 |
| PheGenI | rs34387455 |
| Biobank | rs34387455 |
| 1000 genomes | rs34387455 |
| hgdp | rs34387455 |
| ensembl | rs34387455 |
| geneview | rs34387455 |
| scholar | rs34387455 |
| rs34387455 | |
| pharmgkb | rs34387455 |
| gwascentral | rs34387455 |
| openSNP | rs34387455 |
| 23andMe | rs34387455 |
| SNPshot | rs34387455 |
| SNPdbe | rs34387455 |
| MSV3d | rs34387455 |
| GWAS Ctlg | rs34387455 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34387455(G;G) |
| Alt | rs34387455(G;G) |
| Reference | Rs34387455(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN G (SAN JOSE) |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN G (SAN JOSE) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248229T>C |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016353.2, |
[PMID 511180] Hemoglobin G San Jose [beta 2 7 (A4) Glu to Gly alpha 2], beta thalassemia, and alpha thalassemia in a Sicilian family.
[PMID 2599885] Hb G-San Jose homozygosis in a Calabrian family.
[PMID 7353959] Hemoglobin G-San Jose (alpha 2 beta 2 7(A4)Glu replaced by Gly) in a Mexican family.
[PMID 11939513] Hb G-San Jose variant levels correlate with alpha-thalassemia genotypes.
