rs33946267
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs33946267(C;C) |
Make rs33946267(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5225678 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33946267 |
dbSNP (classic) | rs33946267 |
ClinGen | rs33946267 |
ebi | rs33946267 |
HLI | rs33946267 |
Exac | rs33946267 |
Gnomad | rs33946267 |
Varsome | rs33946267 |
LitVar | rs33946267 |
Map | rs33946267 |
PheGenI | rs33946267 |
Biobank | rs33946267 |
1000 genomes | rs33946267 |
hgdp | rs33946267 |
ensembl | rs33946267 |
geneview | rs33946267 |
scholar | rs33946267 |
rs33946267 | |
pharmgkb | rs33946267 |
gwascentral | rs33946267 |
openSNP | rs33946267 |
23andMe | rs33946267 |
SNPshot | rs33946267 |
SNPdbe | rs33946267 |
MSV3d | rs33946267 |
GWAS Ctlg | rs33946267 |
Max Magnitude | 0 |
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[PMID 18254282] [Hemoglobin O Arab: about 20 cases].
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[PMID 20704537] ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of beta-thalassaemia.
[PMID 12403491] Molecular characterization of Hb D-Punjab [beta121(GH4)Glu-->Gln] in Thailand.
[PMID 893136] Homozygous hemoglobin O Arab in a gypsy family in Yugoslavia.
[PMID 1112610] Twelve families with Hb O Arab in the Burgas district of Bulgaria. Observations on sixteen examples of Hb O Arab-beta (0) thalassaemia.
[PMID 5481775] Hemoglobin O arab in four negro families and its interaction with hemoglobin S and hemoglobin C.
[PMID 10205993] HbOThrace trait, HbOThrace hemoglobinopathy and HbOThrace/Hb beta zero hemoglobinopathy: a retrospective study of 118 cases.
[PMID 1517108] Two beta-thalassemia mutations in Japan: codon 121 (GAA----TAA) and IVS-I-130 (G----C).
[PMID 1740317] Molecular characterization of beta-thalassemia in Czechoslovakia.
[PMID 1971109] Molecular basis for dominantly inherited inclusion body beta-thalassemia.
[PMID 2563949] One form of inclusion body beta-thalassemia is due to a GAA----TAA mutation at codon 121 of the beta chain.
[PMID 3014870] Characterization of a spontaneous mutation to a beta-thalassemia allele.
[PMID 3417300] A substitution of cytosine for thymine in codon 110 of the human beta-globin gene is a novel cause of beta-thalassemia phenotypes.
[PMID 4361439] Inclusion-body beta-thalassemia trait. A form of beta thalassemia producing clinical manifestations in simple heterozygotes.