rs33935673
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs33935673(A;G) |
| Make rs33935673(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225689 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33935673 |
| dbSNP (classic) | rs33935673 |
| ClinGen | rs33935673 |
| ebi | rs33935673 |
| HLI | rs33935673 |
| Exac | rs33935673 |
| Gnomad | rs33935673 |
| Varsome | rs33935673 |
| LitVar | rs33935673 |
| Map | rs33935673 |
| PheGenI | rs33935673 |
| Biobank | rs33935673 |
| 1000 genomes | rs33935673 |
| hgdp | rs33935673 |
| ensembl | rs33935673 |
| geneview | rs33935673 |
| scholar | rs33935673 |
| rs33935673 | |
| pharmgkb | rs33935673 |
| gwascentral | rs33935673 |
| openSNP | rs33935673 |
| 23andMe | rs33935673 |
| SNPshot | rs33935673 |
| SNPdbe | rs33935673 |
| MSV3d | rs33935673 |
| GWAS Ctlg | rs33935673 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33935673(C;C) rs33935673(G;G) |
| Alt | rs33935673(C;C) rs33935673(G;G) |
| Reference | Rs33935673(A;A) |
| Significance | Untested |
| Disease | Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246919T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000029992.1, |
[PMID 700140] The hemoglobin P-Galveston-Hb-C conduction in members of a black family from South Carolina.
[PMID 1164567] A Swiss family with hemoglobin P Galveston beta117His leads to Arg, including two patients with hb P/beta thalassemia.
[PMID 10870891] Identification of the nucleotide change (CAC-->CGC) responsible for Hb P-Galveston [BETA117(G19)His-->Arg].
[PMID 12386379] Diagnosis of Hemoglobinopathies by High-Performance Liquid Chromatography.
[PMID 14109943] HAEMOGLOBINS N AND P IN ITALIAN FAMILIES.
[PMID 20395516] Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population.
[PMID 5775133] Hemoglobin P (alpha 2 beta 2 117 Arg): structure and properties.
[PMID 6687721] Hemoglobin saitama or beta 117 (G19) His leads to Pro, a new variant causing hemolytic disease.
