rs35067717
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs35067717(C;G) |
| Make rs35067717(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226580 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35067717 |
| dbSNP (classic) | rs35067717 |
| ClinGen | rs35067717 |
| ebi | rs35067717 |
| HLI | rs35067717 |
| Exac | rs35067717 |
| Gnomad | rs35067717 |
| Varsome | rs35067717 |
| LitVar | rs35067717 |
| Map | rs35067717 |
| PheGenI | rs35067717 |
| Biobank | rs35067717 |
| 1000 genomes | rs35067717 |
| hgdp | rs35067717 |
| ensembl | rs35067717 |
| geneview | rs35067717 |
| scholar | rs35067717 |
| rs35067717 | |
| pharmgkb | rs35067717 |
| gwascentral | rs35067717 |
| openSNP | rs35067717 |
| 23andMe | rs35067717 |
| SNPshot | rs35067717 |
| SNPdbe | rs35067717 |
| MSV3d | rs35067717 |
| GWAS Ctlg | rs35067717 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35067717(G;G) |
| Alt | rs35067717(G;G) |
| Reference | Rs35067717(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN HEATHROW |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN HEATHROW |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247810G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016375.2, |
[PMID 19377] Isolation of high oxygen affinity hemoglobins.
[PMID 4742453
] Familial polycythaemia caused by a new haemoglobin variant: Hb Heathrow, beta 103 (G5) phenylalanine leads to leucine.
