rs33931746
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Beta Thalassemia carrier; Hemoglobin beta-plus mutation |
| (G;G) | 4.5 | Beta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5227099 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33931746 |
| dbSNP (classic) | rs33931746 |
| ClinGen | rs33931746 |
| ebi | rs33931746 |
| HLI | rs33931746 |
| Exac | rs33931746 |
| Gnomad | rs33931746 |
| Varsome | rs33931746 |
| LitVar | rs33931746 |
| Map | rs33931746 |
| PheGenI | rs33931746 |
| Biobank | rs33931746 |
| 1000 genomes | rs33931746 |
| hgdp | rs33931746 |
| ensembl | rs33931746 |
| geneview | rs33931746 |
| scholar | rs33931746 |
| rs33931746 | |
| pharmgkb | rs33931746 |
| gwascentral | rs33931746 |
| openSNP | rs33931746 |
| 23andMe | rs33931746 |
| SNPshot | rs33931746 |
| SNPdbe | rs33931746 |
| MSV3d | rs33931746 |
| GWAS Ctlg | rs33931746 |
| Max Magnitude | 4.5 |
| ClinVar | |
|---|---|
| Risk | rs33931746(C;C) Rs33931746(G;G) |
| Alt | rs33931746(C;C) Rs33931746(G;G) |
| Reference | Rs33931746(A;A) |
| Significance | Pathogenic |
| Disease | Beta-plus-thalassemia Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | Beta-plus-thalassemia beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248329T>C; NC_000011.9:g.5248329T>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016729.26, RCV000029960.2, RCV000016728.24, |
[PMID 19087310
] Microarray-based estimation of SNP allele-frequency in pooled DNA using the Langmuir kinetic model.
[PMID 7076659] beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box.
[PMID 6308558] ATA box transcription mutation in beta-thalassemia.
[PMID 26694100] Obesity-related known and candidate SNP markers can significantly change affinity of TATA-binding protein for human gene promoters.
