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rs33946267

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs33946267(C;C)
Make rs33946267(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225678
GeneHBB
is asnp
is mentioned by
dbSNPrs33946267
ebirs33946267
HLIrs33946267
Exacrs33946267
Varsomers33946267
Maprs33946267
PheGenIrs33946267
hapmaprs33946267
1000 genomesrs33946267
hgdprs33946267
ensemblrs33946267
gopubmedrs33946267
geneviewrs33946267
scholarrs33946267
googlers33946267
pharmgkbrs33946267
gwascentralrs33946267
openSNPrs33946267
23andMers33946267
23andMe allrs33946267
SNP Nexus

SNPshotrs33946267
SNPdbers33946267
MSV3drs33946267
GWAS Ctlgrs33946267
Max Magnitude0
OMIM141900
Desc
Variant0065
Relatedalso
OMIM141900
Desc
Variant0202
Relatedalso
OMIM141900
Desc
Variant0245
Relatedalso
OMIM141900
Desc
Variant0276
Relatedalso
OMIM141900
Desc
Variant0314
Relatedalso
OMIM141900
Desc
Variant0507
Relatedalso
ClinVar
Risk rs33946267(A,C,T;A,C,T)
Alt rs33946267(A,C,T;A,C,T)
Reference rs33946267(G;G)
Significance Other
Disease Beta-thalassemia Hb D-Los Angeles HEMOGLOBIN T (CAMBODIA) HEMOGLOBIN CLEVELAND HEMOGLOBIN D (AGRI) beta Thalassemia Hb SS disease HEMOGLOBIN O (ARAB) HEMOGLOBIN EGYPT Sickle cell-Hemoglobin O Arab disease HEMOGLOBIN O (TIBESTI)
Variation info
Gene HBB
CLNDBN Beta-thalassemia, dominant inclusion body type Hb D-Los Angeles HEMOGLOBIN T (CAMBODIA) HEMOGLOBIN CLEVELAND HEMOGLOBIN D (AGRI) beta Thalassemia Hb SS disease HEMOGLOBIN O (ARAB) HEMOGLOBIN EGYPT Sickle cell-Hemoglobin O Arab disease HEMOGLOBIN O (TIBESTI)
Reversed 1
HGVS NC_000011.9:g.5246908C>A; NC_000011.9:g.5246908C>G; NC_000011.9:g.5246908C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016658.23, RCV000016317.6, RCV000016617.2, RCV000016758.2, RCV000016858.2, RCV000029994.1, RCV000202465.1, RCV000016524.3, RCV000016525.3, RCV000016577.5, RCV000016863.2, RCV000029993.1, RCV000202511.1,


[PMID 1732017] Hemoglobin variants and activity of the (K+Cl-) cotransport system in human erythrocytes.


[PMID 2930724] A new doubly substituted sickling haemoglobin: HbS-Oman.


[PMID 5915974] Haemoglobin O Arab in Sudanese.


[PMID 6716421OA-icon.png] Haemoglobin O Arab (B121 Glu-Lys) in Turkish Cypriot population.


[PMID 11179419OA-icon.png] Characterization of syntenin, a syndecan-binding PDZ protein, as a component of cell adhesion sites and microfilaments.


[PMID 18254282] [Hemoglobin O Arab: about 20 cases].


[PMID 640855] Hemoglobin Osu-Christiansborg (beta52 (D3) Aspyield Asn) in an Iranian family.


[PMID 2111975] Regulatory role of arachidonic acid-derived metabolites for proliferation of transformed murine Leydig cell in serum-free culture condition.


[PMID 12709369] Rapid detection of beta-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis.


[PMID 19460936OA-icon.png] Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations.


[PMID 20437613] Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).


[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 1971109OA-icon.png] 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 3014870OA-icon.png] 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.