rs35699671
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (GTG;GTG) | 0 | common in complete genomics |
| (TGG;TGG) | 0 | common in clinvar |
| Make rs35699671(-;-) |
| Make rs35699671(-;GTG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226790 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35699671 |
| dbSNP (classic) | rs35699671 |
| ClinGen | rs35699671 |
| ebi | rs35699671 |
| HLI | rs35699671 |
| Exac | rs35699671 |
| Gnomad | rs35699671 |
| Varsome | rs35699671 |
| LitVar | rs35699671 |
| Map | rs35699671 |
| PheGenI | rs35699671 |
| Biobank | rs35699671 |
| 1000 genomes | rs35699671 |
| hgdp | rs35699671 |
| ensembl | rs35699671 |
| geneview | rs35699671 |
| scholar | rs35699671 |
| rs35699671 | |
| pharmgkb | rs35699671 |
| gwascentral | rs35699671 |
| openSNP | rs35699671 |
| 23andMe | rs35699671 |
| SNPshot | rs35699671 |
| SNPdbe | rs35699671 |
| MSV3d | rs35699671 |
| GWAS Ctlg | rs35699671 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35699671(-;-) |
| Alt | rs35699671(-;-) |
| Reference | rs35699671(GGT;GGT) |
| Significance | Other |
| Disease | HEMOGLOBIN KOREA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN KOREA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248020_5248022delCAC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016797.2, |
[PMID 1911355] A spontaneous deletion of beta 33/34 Val in exon 2 of the beta globin gene (Hb Korea) produces the phenotype of dominant beta thalassaemia.
[PMID 9101288] beta-thalassemia mutations in Japanese and Koreans.
