rs36107977
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (I;I) | 0 |
| Make rs36107977(-;-) |
| Make rs36107977(-;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226699 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs36107977 |
| dbSNP (classic) | rs36107977 |
| ClinGen | rs36107977 |
| ebi | rs36107977 |
| HLI | rs36107977 |
| Exac | rs36107977 |
| Gnomad | rs36107977 |
| Varsome | rs36107977 |
| LitVar | rs36107977 |
| Map | rs36107977 |
| PheGenI | rs36107977 |
| Biobank | rs36107977 |
| 1000 genomes | rs36107977 |
| hgdp | rs36107977 |
| ensembl | rs36107977 |
| geneview | rs36107977 |
| scholar | rs36107977 |
| rs36107977 | |
| pharmgkb | rs36107977 |
| gwascentral | rs36107977 |
| openSNP | rs36107977 |
| 23andMe | rs36107977 |
| SNPshot | rs36107977 |
| SNPdbe | rs36107977 |
| MSV3d | rs36107977 |
| GWAS Ctlg | rs36107977 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs36107977(-;-) |
| Alt | rs36107977(-;-) |
| Reference | Rs36107977(G;G) |
| Significance | Pathogenic |
| Disease | beta^0^ Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta^0^ Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247929delC |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016686.23, |
[PMID 2665856] Characterization of a spontaneous mutation in beta-thalassemia associated with advanced paternal age.
[PMID 4512457] New mutation leading to -thalassaemia minor.
