rs34878913
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs34878913(C;C) |
| Make rs34878913(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5254482 |
| Gene | HBG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34878913 |
| dbSNP (classic) | rs34878913 |
| ClinGen | rs34878913 |
| ebi | rs34878913 |
| HLI | rs34878913 |
| Exac | rs34878913 |
| Gnomad | rs34878913 |
| Varsome | rs34878913 |
| LitVar | rs34878913 |
| Map | rs34878913 |
| PheGenI | rs34878913 |
| Biobank | rs34878913 |
| 1000 genomes | rs34878913 |
| hgdp | rs34878913 |
| ensembl | rs34878913 |
| geneview | rs34878913 |
| scholar | rs34878913 |
| rs34878913 | |
| pharmgkb | rs34878913 |
| gwascentral | rs34878913 |
| openSNP | rs34878913 |
| 23andMe | rs34878913 |
| SNPshot | rs34878913 |
| SNPdbe | rs34878913 |
| MSV3d | rs34878913 |
| GWAS Ctlg | rs34878913 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34878913(C;C) |
| Alt | rs34878913(C;C) |
| Reference | Rs34878913(T;T) |
| Significance | Pathogenic |
| Disease | Cyanosis |
| Variation | info |
| Gene | HBG2 |
| CLNDBN | Cyanosis, transient neonatal |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5275712A>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016136.25, |
[PMID 7741137] Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis.
