rs34574239
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs34574239(C;T) |
| Make rs34574239(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176994 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34574239 |
| dbSNP (classic) | rs34574239 |
| ClinGen | rs34574239 |
| ebi | rs34574239 |
| HLI | rs34574239 |
| Exac | rs34574239 |
| Gnomad | rs34574239 |
| Varsome | rs34574239 |
| LitVar | rs34574239 |
| Map | rs34574239 |
| PheGenI | rs34574239 |
| Biobank | rs34574239 |
| 1000 genomes | rs34574239 |
| hgdp | rs34574239 |
| ensembl | rs34574239 |
| geneview | rs34574239 |
| scholar | rs34574239 |
| rs34574239 | |
| pharmgkb | rs34574239 |
| gwascentral | rs34574239 |
| openSNP | rs34574239 |
| 23andMe | rs34574239 |
| SNPshot | rs34574239 |
| SNPdbe | rs34574239 |
| MSV3d | rs34574239 |
| GWAS Ctlg | rs34574239 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34574239(A;A) |
| Alt | rs34574239(A;A) |
| Reference | Rs34574239(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN J (ROVIGO) |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN J (ROVIGO) |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226993C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017071.2, |
[PMID 31339] Hemoglobin J Rovigo (alpha53 Ala replaced by Asp) in association with beta-thalassemia.
[PMID 4824923] A new haemoglobin variant: J-Rovigo alpha 53 (E-2) alanine leads to aspartic acid.
