rs33971270
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs33971270(C;T) |
| Make rs33971270(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5233059 |
| Gene | HBD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33971270 |
| dbSNP (classic) | rs33971270 |
| ClinGen | rs33971270 |
| ebi | rs33971270 |
| HLI | rs33971270 |
| Exac | rs33971270 |
| Gnomad | rs33971270 |
| Varsome | rs33971270 |
| LitVar | rs33971270 |
| Map | rs33971270 |
| PheGenI | rs33971270 |
| Biobank | rs33971270 |
| 1000 genomes | rs33971270 |
| hgdp | rs33971270 |
| ensembl | rs33971270 |
| geneview | rs33971270 |
| scholar | rs33971270 |
| rs33971270 | |
| pharmgkb | rs33971270 |
| gwascentral | rs33971270 |
| openSNP | rs33971270 |
| 23andMe | rs33971270 |
| SNPshot | rs33971270 |
| SNPdbe | rs33971270 |
| MSV3d | rs33971270 |
| GWAS Ctlg | rs33971270 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) | |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs33971270(G;G) rs33971270(T;T) |
| Alt | rs33971270(G;G) rs33971270(T;T) |
| Reference | Rs33971270(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN A(2) CORFU HEMOGLOBIN A(2) TROODOS |
| Variation | info |
| Gene | HBD |
| CLNDBN | HEMOGLOBIN A(2) CORFU HEMOGLOBIN A(2) TROODOS |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5254289G>A |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016216.1, RCV000016217.1, |
[PMID 1742490] Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis.
