rs1141387
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs1141387(G;T) |
| Make rs1141387(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226789 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1141387 |
| dbSNP (classic) | rs1141387 |
| ClinGen | rs1141387 |
| ebi | rs1141387 |
| HLI | rs1141387 |
| Exac | rs1141387 |
| Gnomad | rs1141387 |
| Varsome | rs1141387 |
| LitVar | rs1141387 |
| Map | rs1141387 |
| PheGenI | rs1141387 |
| Biobank | rs1141387 |
| 1000 genomes | rs1141387 |
| hgdp | rs1141387 |
| ensembl | rs1141387 |
| geneview | rs1141387 |
| scholar | rs1141387 |
| rs1141387 | |
| pharmgkb | rs1141387 |
| gwascentral | rs1141387 |
| openSNP | rs1141387 |
| 23andMe | rs1141387 |
| SNPshot | rs1141387 |
| SNPdbe | rs1141387 |
| MSV3d | rs1141387 |
| GWAS Ctlg | rs1141387 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1141387(C;C) rs1141387(T;T) |
| Alt | rs1141387(C;C) rs1141387(T;T) |
| Reference | Rs1141387(G;G) |
| Significance | Pathogenic |
| Disease | Erythrocytosis |
| Variation | info |
| Gene | HBB |
| CLNDBN | Erythrocytosis |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248019C>A |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016552.5, |
[PMID 19289044
] Modeling effects of human single nucleotide polymorphisms on protein-protein interactions.
[PMID 7417488] Hemoglobin Pitie-Salpetriere beta 34 (B16) Val replaced by Phe. A new high oxygen affinity variant associated with familial erythrocytosis.
[PMID 10846826] Hemoglobin Pitie-Salpetriere [beta 34 (B16) Val-->Phe] showing erythrocytosis and mild hemolysis in a Japanese man.
[PMID 12908805] Two new hemoglobin variants with increased oxygen affinity: Hb Nantes [beta34(B16)Val-->Leu] and Hb Vexin [beta116(G18)His-->Leu].
