rs35802118
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs35802118(A;A) |
| Make rs35802118(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226967 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35802118 |
| dbSNP (classic) | rs35802118 |
| ClinGen | rs35802118 |
| ebi | rs35802118 |
| HLI | rs35802118 |
| Exac | rs35802118 |
| Gnomad | rs35802118 |
| Varsome | rs35802118 |
| LitVar | rs35802118 |
| Map | rs35802118 |
| PheGenI | rs35802118 |
| Biobank | rs35802118 |
| 1000 genomes | rs35802118 |
| hgdp | rs35802118 |
| ensembl | rs35802118 |
| geneview | rs35802118 |
| scholar | rs35802118 |
| rs35802118 | |
| pharmgkb | rs35802118 |
| gwascentral | rs35802118 |
| openSNP | rs35802118 |
| 23andMe | rs35802118 |
| SNPshot | rs35802118 |
| SNPdbe | rs35802118 |
| MSV3d | rs35802118 |
| GWAS Ctlg | rs35802118 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35802118(A;A) rs35802118(T;T) |
| Alt | rs35802118(A;A) rs35802118(T;T) |
| Reference | Rs35802118(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN BADEN |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN BADEN |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248197C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016781.2, |
[PMID 1463768] Heterozygosity for the IVS-I-5 (G-->C) mutation with a G-->A change at codon 18 (Val-->Met; Hb Baden) in cis and a T-->G mutation at codon 126 (Val-->Gly; Hb Dhonburi) in trans resulting in a thalassemia intermedia.
