rs35887507
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs35887507(A;A) |
| Make rs35887507(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5234193 |
| Gene | HBD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35887507 |
| dbSNP (classic) | rs35887507 |
| ClinGen | rs35887507 |
| ebi | rs35887507 |
| HLI | rs35887507 |
| Exac | rs35887507 |
| Gnomad | rs35887507 |
| Varsome | rs35887507 |
| LitVar | rs35887507 |
| Map | rs35887507 |
| PheGenI | rs35887507 |
| Biobank | rs35887507 |
| 1000 genomes | rs35887507 |
| hgdp | rs35887507 |
| ensembl | rs35887507 |
| geneview | rs35887507 |
| scholar | rs35887507 |
| rs35887507 | |
| pharmgkb | rs35887507 |
| gwascentral | rs35887507 |
| openSNP | rs35887507 |
| 23andMe | rs35887507 |
| SNPshot | rs35887507 |
| SNPdbe | rs35887507 |
| MSV3d | rs35887507 |
| GWAS Ctlg | rs35887507 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35887507(A;A) |
| Alt | rs35887507(A;A) |
| Reference | Rs35887507(G;G) |
| Significance | Pathogenic |
| Disease | Delta-0-thalassemia |
| Variation | info |
| Gene | HBD |
| CLNDBN | Delta-0-thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5255423C>T |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016229.25, |
[PMID 8118467] A novel delta O-thalassemia mutation: TGG-->TAG (TRP-->STOP) at codon 37.
