rs35850071
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs35850071(C;T) |
| Make rs35850071(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176727 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35850071 |
| dbSNP (classic) | rs35850071 |
| ClinGen | rs35850071 |
| ebi | rs35850071 |
| HLI | rs35850071 |
| Exac | rs35850071 |
| Gnomad | rs35850071 |
| Varsome | rs35850071 |
| LitVar | rs35850071 |
| Map | rs35850071 |
| PheGenI | rs35850071 |
| Biobank | rs35850071 |
| 1000 genomes | rs35850071 |
| hgdp | rs35850071 |
| ensembl | rs35850071 |
| geneview | rs35850071 |
| scholar | rs35850071 |
| rs35850071 | |
| pharmgkb | rs35850071 |
| gwascentral | rs35850071 |
| openSNP | rs35850071 |
| 23andMe | rs35850071 |
| SNPshot | rs35850071 |
| SNPdbe | rs35850071 |
| MSV3d | rs35850071 |
| GWAS Ctlg | rs35850071 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35850071(T;T) |
| Alt | rs35850071(T;T) |
| Reference | Rs35850071(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN DOUALA |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN DOUALA |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226726C>T |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000017224.2, |
[PMID 11570726] Hb Douala [alpha3(A1)Ser --> Phe]: a new alpha1 gene mutation in a Cameroonian woman heterozygous for Hb S and a 3.7 kb deletional alpha-thalassemia.
