rs35209591
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs35209591(C;C) |
| Make rs35209591(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226586 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35209591 |
| dbSNP (classic) | rs35209591 |
| ClinGen | rs35209591 |
| ebi | rs35209591 |
| HLI | rs35209591 |
| Exac | rs35209591 |
| Gnomad | rs35209591 |
| Varsome | rs35209591 |
| LitVar | rs35209591 |
| Map | rs35209591 |
| PheGenI | rs35209591 |
| Biobank | rs35209591 |
| 1000 genomes | rs35209591 |
| hgdp | rs35209591 |
| ensembl | rs35209591 |
| geneview | rs35209591 |
| scholar | rs35209591 |
| rs35209591 | |
| pharmgkb | rs35209591 |
| gwascentral | rs35209591 |
| openSNP | rs35209591 |
| 23andMe | rs35209591 |
| SNPshot | rs35209591 |
| SNPdbe | rs35209591 |
| MSV3d | rs35209591 |
| GWAS Ctlg | rs35209591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35209591(A;A) rs35209591(C;C) rs35209591(T;T) |
| Alt | rs35209591(A;A) rs35209591(C;C) rs35209591(T;T) |
| Reference | Rs35209591(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN POTOMAC |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN POTOMAC |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247816C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016557.2, |
[PMID 563749] Hb Potomac (101 Glu replaced by Asp): speculations on placental oxygen transport in carriers of high-affinity hemoglobins.
[PMID 721612] Hemoglobin Potomac: clinical picture, biosynthesis and stability.
