rs35849199
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs35849199(C;C) |
| Make rs35849199(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225705 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35849199 |
| dbSNP (classic) | rs35849199 |
| ClinGen | rs35849199 |
| ebi | rs35849199 |
| HLI | rs35849199 |
| Exac | rs35849199 |
| Gnomad | rs35849199 |
| Varsome | rs35849199 |
| LitVar | rs35849199 |
| Map | rs35849199 |
| PheGenI | rs35849199 |
| Biobank | rs35849199 |
| 1000 genomes | rs35849199 |
| hgdp | rs35849199 |
| ensembl | rs35849199 |
| geneview | rs35849199 |
| scholar | rs35849199 |
| rs35849199 | |
| pharmgkb | rs35849199 |
| gwascentral | rs35849199 |
| openSNP | rs35849199 |
| 23andMe | rs35849199 |
| SNPshot | rs35849199 |
| SNPdbe | rs35849199 |
| MSV3d | rs35849199 |
| GWAS Ctlg | rs35849199 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35849199(C;C) |
| Alt | rs35849199(C;C) |
| Reference | Rs35849199(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN INDIANAPOLIS Heinz body anemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN INDIANAPOLIS Heinz body anemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246935A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016392.3, RCV000016393.27, |
[PMID 429365] The structure of hemoglobin Indianapolis [beta112(G14) arginine]. An unstable variant detectable only by isotopic labeling.
[PMID 447835
] Hemoglobin Indianapolis (beta 112[G14] arginine). An unstable beta-chain variant producing the phenotype of severe beta-thalassemia.
[PMID 3781865] A case of hemoglobin Indianapolis [beta 112(G14) Cys----Arg] in an individual from Cordoba, Spain.
