rs35993655
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | Alpha-thalassemia allele carrier |
| (T;T) | 0 | common in complete genomics |
| Make rs35993655(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177371 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35993655 |
| dbSNP (classic) | rs35993655 |
| ClinGen | rs35993655 |
| ebi | rs35993655 |
| HLI | rs35993655 |
| Exac | rs35993655 |
| Gnomad | rs35993655 |
| Varsome | rs35993655 |
| LitVar | rs35993655 |
| Map | rs35993655 |
| PheGenI | rs35993655 |
| Biobank | rs35993655 |
| 1000 genomes | rs35993655 |
| hgdp | rs35993655 |
| ensembl | rs35993655 |
| geneview | rs35993655 |
| scholar | rs35993655 |
| rs35993655 | |
| pharmgkb | rs35993655 |
| gwascentral | rs35993655 |
| openSNP | rs35993655 |
| 23andMe | rs35993655 |
| SNPshot | rs35993655 |
| SNPdbe | rs35993655 |
| MSV3d | rs35993655 |
| GWAS Ctlg | rs35993655 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs35993655(C;C) |
| Alt | rs35993655(C;C) |
| Reference | Rs35993655(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN TUNIS-BIZERTE |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN TUNIS-BIZERTE |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227370T>C |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017211.2, |
[PMID 7786798] Haemoglobin Tunis-Bizerte: a new alpha 1 globin 129 Leu-->Pro unstable variant with thalassaemic phenotype.
