rs34501593
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs34501593(A;A) |
| Make rs34501593(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5254707 |
| Gene | HBG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34501593 |
| dbSNP (classic) | rs34501593 |
| ClinGen | rs34501593 |
| ebi | rs34501593 |
| HLI | rs34501593 |
| Exac | rs34501593 |
| Gnomad | rs34501593 |
| Varsome | rs34501593 |
| LitVar | rs34501593 |
| Map | rs34501593 |
| PheGenI | rs34501593 |
| Biobank | rs34501593 |
| 1000 genomes | rs34501593 |
| hgdp | rs34501593 |
| ensembl | rs34501593 |
| geneview | rs34501593 |
| scholar | rs34501593 |
| rs34501593 | |
| pharmgkb | rs34501593 |
| gwascentral | rs34501593 |
| openSNP | rs34501593 |
| 23andMe | rs34501593 |
| SNPshot | rs34501593 |
| SNPdbe | rs34501593 |
| MSV3d | rs34501593 |
| GWAS Ctlg | rs34501593 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34501593(A;A) |
| Alt | rs34501593(A;A) |
| Reference | Rs34501593(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN F (AUCKLAND) |
| Variation | info |
| Gene | HBG2 |
| CLNDBN | HEMOGLOBIN F (AUCKLAND) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5275937C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016098.1, |
[PMID 2417990] Hb F-Auckland [alpha 2G gamma 2(7)(A4)Asp----Asn] observed in a Caucasian newborn from Alabama.
[PMID 4429671] Haemoglobin F auckland G gamma 7 Asp leads to Asn: further evidence for multiple genes for the gamma chain.
