rs35949130
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (AATAA;AATAA) | 0 | common in clinvar |
| (ATAAA;ATAAA) | 0 | common in clinvar |
| (I;I) | 0 | |
| (TAAAA;TAAAA) | 0 | common in clinvar |
| Make rs35949130(-;-) |
| Make rs35949130(-;AATAA) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225486 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35949130 |
| dbSNP (classic) | rs35949130 |
| ClinGen | rs35949130 |
| ebi | rs35949130 |
| HLI | rs35949130 |
| Exac | rs35949130 |
| Gnomad | rs35949130 |
| Varsome | rs35949130 |
| LitVar | rs35949130 |
| Map | rs35949130 |
| PheGenI | rs35949130 |
| Biobank | rs35949130 |
| 1000 genomes | rs35949130 |
| hgdp | rs35949130 |
| ensembl | rs35949130 |
| geneview | rs35949130 |
| scholar | rs35949130 |
| rs35949130 | |
| pharmgkb | rs35949130 |
| gwascentral | rs35949130 |
| openSNP | rs35949130 |
| 23andMe | rs35949130 |
| SNPshot | rs35949130 |
| SNPdbe | rs35949130 |
| MSV3d | rs35949130 |
| GWAS Ctlg | rs35949130 |
| Merged from | Rs606231219 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | Rs35949130(TAAAA;TAAAA) rs35949130(-;-) |
| Alt | Rs35949130(TAAAA;TAAAA) rs35949130(-;-) |
| Reference | Rs35949130(AATAA;AATAA) |
| Significance | Pathogenic |
| Disease | Beta-plus-thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | Beta-plus-thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246714_5246718delTTTTA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016768.27, |
[PMID 1705411] Molecular studies of beta-thalassemia in Israel. Mutational analysis and expression studies.
