rs34017450
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs34017450(A;C) |
| Make rs34017450(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5254474 |
| Gene | HBG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34017450 |
| dbSNP (classic) | rs34017450 |
| ClinGen | rs34017450 |
| ebi | rs34017450 |
| HLI | rs34017450 |
| Exac | rs34017450 |
| Gnomad | rs34017450 |
| Varsome | rs34017450 |
| LitVar | rs34017450 |
| Map | rs34017450 |
| PheGenI | rs34017450 |
| Biobank | rs34017450 |
| 1000 genomes | rs34017450 |
| hgdp | rs34017450 |
| ensembl | rs34017450 |
| geneview | rs34017450 |
| scholar | rs34017450 |
| rs34017450 | |
| pharmgkb | rs34017450 |
| gwascentral | rs34017450 |
| openSNP | rs34017450 |
| 23andMe | rs34017450 |
| SNPshot | rs34017450 |
| SNPdbe | rs34017450 |
| MSV3d | rs34017450 |
| GWAS Ctlg | rs34017450 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34017450(C;C) |
| Alt | rs34017450(C;C) |
| Reference | Rs34017450(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN F (LODZ) |
| Variation | info |
| Gene | HBG2 |
| CLNDBN | HEMOGLOBIN F (LODZ) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5275704T>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016108.1, |
[PMID 1726098] A second observation of Hb F-Lodz or alpha 2G gamma (2)44(CD3)Ser----Arg.
[PMID 6814491] Hemoglobin F Lodz (G gamma I 44 Ser replaced by Arg). A newly identified variant from an American infant of Polish descent.
