rs34439278
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs34439278(A;A) |
| Make rs34439278(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226722 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34439278 |
| dbSNP (classic) | rs34439278 |
| ClinGen | rs34439278 |
| ebi | rs34439278 |
| HLI | rs34439278 |
| Exac | rs34439278 |
| Gnomad | rs34439278 |
| Varsome | rs34439278 |
| LitVar | rs34439278 |
| Map | rs34439278 |
| PheGenI | rs34439278 |
| Biobank | rs34439278 |
| 1000 genomes | rs34439278 |
| hgdp | rs34439278 |
| ensembl | rs34439278 |
| geneview | rs34439278 |
| scholar | rs34439278 |
| rs34439278 | |
| pharmgkb | rs34439278 |
| gwascentral | rs34439278 |
| openSNP | rs34439278 |
| 23andMe | rs34439278 |
| SNPshot | rs34439278 |
| SNPdbe | rs34439278 |
| MSV3d | rs34439278 |
| GWAS Ctlg | rs34439278 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34439278(A;A) |
| Alt | rs34439278(A;A) |
| Reference | Rs34439278(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | HBB |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247952C>T |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016405.5, |
[PMID 5967288] Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, hb Chesapeak and hb J (Bangkok).
[PMID 6025242] Haemoglobin J-Bangkok: a clinical, haematological and genetical study.
[PMID 12403500] Hb G-Honolulu [alpha30(B11)Glu-->Gln (alpha2)], Hb J-Meinung [beta56(D7)Gly-->Asp], and beta-thalassemia [codons 41/42 (-TCTT)] in a Taiwanese family.
