rs35939430
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs35939430(C;C) |
| Make rs35939430(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225654 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35939430 |
| dbSNP (classic) | rs35939430 |
| ClinGen | rs35939430 |
| ebi | rs35939430 |
| HLI | rs35939430 |
| Exac | rs35939430 |
| Gnomad | rs35939430 |
| Varsome | rs35939430 |
| LitVar | rs35939430 |
| Map | rs35939430 |
| PheGenI | rs35939430 |
| Biobank | rs35939430 |
| 1000 genomes | rs35939430 |
| hgdp | rs35939430 |
| ensembl | rs35939430 |
| geneview | rs35939430 |
| scholar | rs35939430 |
| rs35939430 | |
| pharmgkb | rs35939430 |
| gwascentral | rs35939430 |
| openSNP | rs35939430 |
| 23andMe | rs35939430 |
| SNPshot | rs35939430 |
| SNPdbe | rs35939430 |
| MSV3d | rs35939430 |
| GWAS Ctlg | rs35939430 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35939430(A;A) rs35939430(C;C) |
| Alt | rs35939430(A;A) rs35939430(C;C) |
| Reference | Rs35939430(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN CRETE |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN CRETE |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246884C>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016309.2, |
[PMID 36184] Hemoglobin Crete (beta 129 ala leads to pro): a new high-affinity variant interacting with beta o -and delta beta o -thalassemia.
[PMID 15658190] Molecular characterization and diagnosis of Hb Crete [beta129(H7)Ala-->Pro].
