rs1141370
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs1141370(A;A) |
| Make rs1141370(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226792 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1141370 |
| dbSNP (classic) | rs1141370 |
| ClinGen | rs1141370 |
| ebi | rs1141370 |
| HLI | rs1141370 |
| Exac | rs1141370 |
| Gnomad | rs1141370 |
| Varsome | rs1141370 |
| LitVar | rs1141370 |
| Map | rs1141370 |
| PheGenI | rs1141370 |
| Biobank | rs1141370 |
| 1000 genomes | rs1141370 |
| hgdp | rs1141370 |
| ensembl | rs1141370 |
| geneview | rs1141370 |
| scholar | rs1141370 |
| rs1141370 | |
| pharmgkb | rs1141370 |
| gwascentral | rs1141370 |
| openSNP | rs1141370 |
| 23andMe | rs1141370 |
| SNPshot | rs1141370 |
| SNPdbe | rs1141370 |
| MSV3d | rs1141370 |
| GWAS Ctlg | rs1141370 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1141370(A;A) rs1141370(T;T) |
| Alt | rs1141370(A;A) rs1141370(T;T) |
| Reference | Rs1141370(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN RIO CLARO |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN RIO CLARO |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248022C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016833.2, |
[PMID 10335985] Hb Rio Claro [beta34(B16)Val-->Met]: a novel electrophoretically silent variant found in association with Hb Hasharon [alpha47(CE5)Asp-->His] and alpha-thalassemia-2(-alpha3.7).
[PMID 12484637] Hb Rio Claro is caused by a mutation at the 33rd position of the beta-globin chain.
