rs34432567
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs34432567(A;G) |
| Make rs34432567(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5249785 |
| Gene | HBG1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34432567 |
| dbSNP (classic) | rs34432567 |
| ClinGen | rs34432567 |
| ebi | rs34432567 |
| HLI | rs34432567 |
| Exac | rs34432567 |
| Gnomad | rs34432567 |
| Varsome | rs34432567 |
| LitVar | rs34432567 |
| Map | rs34432567 |
| PheGenI | rs34432567 |
| Biobank | rs34432567 |
| 1000 genomes | rs34432567 |
| hgdp | rs34432567 |
| ensembl | rs34432567 |
| geneview | rs34432567 |
| scholar | rs34432567 |
| rs34432567 | |
| pharmgkb | rs34432567 |
| gwascentral | rs34432567 |
| openSNP | rs34432567 |
| 23andMe | rs34432567 |
| SNPshot | rs34432567 |
| SNPdbe | rs34432567 |
| MSV3d | rs34432567 |
| GWAS Ctlg | rs34432567 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34432567(G;G) |
| Alt | rs34432567(G;G) |
| Reference | Rs34432567(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN F (IZUMI) HEMOGLOBIN F (KOTOBUKI) |
| Variation | info |
| Gene | HBG1 |
| CLNDBN | HEMOGLOBIN F (IZUMI) HEMOGLOBIN F (KOTOBUKI) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5271015T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016156.1, RCV000030903.1, |
[PMID 6175602] A new gamma chain variant, HB F Kotobuki or AI gamma 6 (A3) Glu leads to Gly.
[PMID 6197997] Characterization of a new fetal hemoglobin variant, Hb F Izumi A gamma 6Glu replaced by Gly, by molecular secondary ion mass spectrometry.
