rs35348864
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (;) | 0 | common in clinvar |
| (-;-) | 0 | common in complete genomics |
| (I;I) | 0 |
| Make rs35348864(-;CGG) |
| Make rs35348864(CGG;CGG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226798 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35348864 |
| dbSNP (classic) | rs35348864 |
| ClinGen | rs35348864 |
| ebi | rs35348864 |
| HLI | rs35348864 |
| Exac | rs35348864 |
| Gnomad | rs35348864 |
| Varsome | rs35348864 |
| LitVar | rs35348864 |
| Map | rs35348864 |
| PheGenI | rs35348864 |
| Biobank | rs35348864 |
| 1000 genomes | rs35348864 |
| hgdp | rs35348864 |
| ensembl | rs35348864 |
| geneview | rs35348864 |
| scholar | rs35348864 |
| rs35348864 | |
| pharmgkb | rs35348864 |
| gwascentral | rs35348864 |
| openSNP | rs35348864 |
| 23andMe | rs35348864 |
| SNPshot | rs35348864 |
| SNPdbe | rs35348864 |
| MSV3d | rs35348864 |
| GWAS Ctlg | rs35348864 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35348864(GGC;GGC) |
| Alt | rs35348864(GGC;GGC) |
| Reference | Rs35348864(-;-) |
| Significance | Pathogenic |
| Disease | Beta-thalassemia dominant |
| Variation | info |
| Gene | HBB |
| CLNDBN | Beta-thalassemia dominant |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248028_5248029insCCG |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016821.26, |
[PMID 8703815] The dominant beta-thalassaemia in a Spanish family is due to a frameshift that introduces an extra CGG codon ( = arginine) at the 5' end of the second exon.
