rs35983258
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs35983258(C;T) |
| Make rs35983258(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5250053 |
| Gene | HBG1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35983258 |
| dbSNP (classic) | rs35983258 |
| ClinGen | rs35983258 |
| ebi | rs35983258 |
| HLI | rs35983258 |
| Exac | rs35983258 |
| Gnomad | rs35983258 |
| Varsome | rs35983258 |
| LitVar | rs35983258 |
| Map | rs35983258 |
| PheGenI | rs35983258 |
| Biobank | rs35983258 |
| 1000 genomes | rs35983258 |
| hgdp | rs35983258 |
| ensembl | rs35983258 |
| geneview | rs35983258 |
| scholar | rs35983258 |
| rs35983258 | |
| pharmgkb | rs35983258 |
| gwascentral | rs35983258 |
| openSNP | rs35983258 |
| 23andMe | rs35983258 |
| SNPshot | rs35983258 |
| SNPdbe | rs35983258 |
| MSV3d | rs35983258 |
| GWAS Ctlg | rs35983258 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35983258(T;T) |
| Alt | rs35983258(T;T) |
| Reference | Rs35983258(C;C) |
| Significance | Pathogenic |
| Disease | Fetal hemoglobin quantitative trait locus 1 |
| Variation | info |
| Gene | HBG1 |
| CLNDBN | Fetal hemoglobin quantitative trait locus 1 |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5271283G>A |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016177.22, |
[PMID 6210198
] A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and beta-thalassemia.
