rs63750345
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs63750345(A;A) |
| Make rs63750345(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5233985 |
| Gene | HBD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750345 |
| dbSNP (classic) | rs63750345 |
| ClinGen | rs63750345 |
| ebi | rs63750345 |
| HLI | rs63750345 |
| Exac | rs63750345 |
| Gnomad | rs63750345 |
| Varsome | rs63750345 |
| LitVar | rs63750345 |
| Map | rs63750345 |
| PheGenI | rs63750345 |
| Biobank | rs63750345 |
| 1000 genomes | rs63750345 |
| hgdp | rs63750345 |
| ensembl | rs63750345 |
| geneview | rs63750345 |
| scholar | rs63750345 |
| rs63750345 | |
| pharmgkb | rs63750345 |
| gwascentral | rs63750345 |
| openSNP | rs63750345 |
| 23andMe | rs63750345 |
| SNPshot | rs63750345 |
| SNPdbe | rs63750345 |
| MSV3d | rs63750345 |
| GWAS Ctlg | rs63750345 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63750345(A;A) |
| Alt | rs63750345(A;A) |
| Reference | Rs63750345(T;T) |
| Significance | Pathogenic |
| Disease | delta Thalassemia |
| Variation | info |
| Gene | HBD |
| CLNDBN | delta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5255215A>T |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016237.25, |
[PMID 12402333] Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features.
