rs1803195
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs1803195(A;A) |
| Make rs1803195(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226641 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1803195 |
| dbSNP (classic) | rs1803195 |
| ClinGen | rs1803195 |
| ebi | rs1803195 |
| HLI | rs1803195 |
| Exac | rs1803195 |
| Gnomad | rs1803195 |
| Varsome | rs1803195 |
| LitVar | rs1803195 |
| Map | rs1803195 |
| PheGenI | rs1803195 |
| Biobank | rs1803195 |
| 1000 genomes | rs1803195 |
| hgdp | rs1803195 |
| ensembl | rs1803195 |
| geneview | rs1803195 |
| scholar | rs1803195 |
| rs1803195 | |
| pharmgkb | rs1803195 |
| gwascentral | rs1803195 |
| openSNP | rs1803195 |
| 23andMe | rs1803195 |
| SNPshot | rs1803195 |
| SNPdbe | rs1803195 |
| MSV3d | rs1803195 |
| GWAS Ctlg | rs1803195 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1803195(A;A) rs1803195(T;T) |
| Alt | rs1803195(A;A) rs1803195(T;T) |
| Reference | Rs1803195(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN PYRGOS |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN PYRGOS |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247871C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016560.3, |
[PMID 1260137] Hemoglobin pyrgos alpha2 beta2 83 (EF7) Gly leads to Asp: a new hemoglobin variant in double heterozygosity with hemoglobin S.
[PMID 1802885] Six rare hemoglobin variants found in Sicily.
[PMID 9640611] Molecular and hematological characterization of Hb Tak and Hb Pyrgos in Thailand.
[PMID 12144064] Double heterozygosity for Hb Pyrgos [beta83(EF7)Gly-->Asp] and Hb E [beta26(B8)Glu-->Lys] found in association with alpha-thalassemia.
