rs713040
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs713040(A;G) |
| Make rs713040(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5227013 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs713040 |
| dbSNP (classic) | rs713040 |
| ClinGen | rs713040 |
| ebi | rs713040 |
| HLI | rs713040 |
| Exac | rs713040 |
| Gnomad | rs713040 |
| Varsome | rs713040 |
| LitVar | rs713040 |
| Map | rs713040 |
| PheGenI | rs713040 |
| Biobank | rs713040 |
| 1000 genomes | rs713040 |
| hgdp | rs713040 |
| ensembl | rs713040 |
| geneview | rs713040 |
| scholar | rs713040 |
| rs713040 | |
| pharmgkb | rs713040 |
| gwascentral | rs713040 |
| openSNP | rs713040 |
| 23andMe | rs713040 |
| SNPshot | rs713040 |
| SNPdbe | rs713040 |
| MSV3d | rs713040 |
| GWAS Ctlg | rs713040 |
| GMAF | 0.2603 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs713040(C;C) rs713040(G;G) rs713040(T;T) |
| Alt | rs713040(C;C) rs713040(G;G) rs713040(T;T) |
| Reference | Rs713040(A;A) |
| Significance | Other |
| Disease | not specified Fetal hemoglobin quantitative trait locus 1 Beta Thalassemia Hb SS disease HEMOGLOBIN OKAYAMA |
| Variation | info |
| Gene | HBB |
| CLNDBN | not specified Fetal hemoglobin quantitative trait locus 1 beta Thalassemia Hb SS disease HEMOGLOBIN OKAYAMA |
| Reversed | 0 |
| HGVS | NC_000011.9:g.5248243A>G; NC_000011.9:g.5248243A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000173144.2, RCV000271089.1, RCV000328523.1, RCV000362141.1, RCV000016529.2, |
[PMID 21333566] The association between intragenic SNP haplotypes and mutations of the beta globin gene in a Turkish population. [PMID 6852251] Hemoglobin Okayama [beta 2 (NA 2) His replaced by Gln]: a new 'silent' hemoglobin variant with substituted amino acid residue at the 2,3-diphosphoglycerate binding site.
[PMID 11109504] Falsely increased HbA1c values by HPLC and falsely decreased values by immunoassay lead to identification of Hb Okayama and help in the management of a diabetic patient.
