Variant: rs33946267 

    present in Gene: HBB
    present in Chromosome: 11
    Position on Chromosome: 5225678
    Alleles of this Variant: C/A;G;T

rs33946267 in HBB gene and Sickle cell-Hemoglobin O Arab disease PMID 9834244 1998 HbS-oman heterozygote: a new dominant sickle syndrome.

PMID 3859465 1985 The interaction of hemoglobin O Arab with Hb S and beta+ thalassemia among Israeli Arabs.

PMID 11179419 2001 Characterization of syntenin, a syndecan-binding PDZ protein, as a component of cell adhesion sites and microfilaments.

PMID 22975760 2013 An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

PMID 5481775 1970 Hemoglobin O arab in four negro families and its interaction with hemoglobin S and hemoglobin C.

PMID 24880717 2014 Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology.

PMID 1732017 1992 Hemoglobin variants and activity of the (K+Cl-) cotransport system in human erythrocytes.

PMID 1112610 1975 Twelve families with Hb O Arab in the Burgas district of Bulgaria. Observations on sixteen examples of Hb O Arab-beta (0) thalassaemia.

rs33946267 in HBB gene and beta Thalassemia PMID 1971109 1990 Molecular basis for dominantly inherited inclusion body beta-thalassemia.

PMID 24265529 2013 Clinical characteristics of pediatric thalassemia in Korea: a single institute experience.

PMID 10367791 1999 Potential of denaturing gradient gel electrophoresis for scanning of beta-thalassemia mutations in India.

PMID 22028795 2011 In silico analysis of single nucleotide polymorphism (SNPs) in human β-globin gene.

PMID 1177278 1975 Homozygous haemoglobin D Punjab.

PMID 2563949 1989 One form of inclusion body beta-thalassemia is due to a GAA----TAA mutation at codon 121 of the beta chain.

PMID 8161774 1994 Nonsense codon mutations in the terminal exon of the beta-globin gene are not associated with a reduction in beta-mRNA accumulation: a mechanism for the phenotype of dominant beta-thalassemia.

PMID 24080465 2013 Spectrum of β-thalassemia mutations in Guizhou Province, PR China, including first observation of codon 121 (GAA>TAA) in Chinese population.

PMID 3557998 1986 A note about the incidence and origin of Hb D-Punjab in Xinjiang, People's Republic of China.

PMID 3014870 1986 Characterization of a spontaneous mutation to a beta-thalassemia allele.

PMID 9163586 1997 Beta-thalassaemia in the immigrant and non-immigrant German populations.

PMID 25849334 2015 Genetic heterogeneity of the β-globin gene in various geographic populations of Yunnan in southwestern China.

PMID 4078867 1985 The first observation of Hb D Punjab beta zero thalassaemia in an English family with 22 cases of unsuspected beta zero thalassaemia minor among its members.

PMID 26877226 2017 Prevalence and genetic analysis of α- and β-thalassemia in Baise region, a multi-ethnic region in southern China.

PMID 1517108 1992 Two beta-thalassemia mutations in Japan: codon 121 (GAA----TAA) and IVS-I-130 (G----C).

PMID 9875660 1998 Phenotype variability of the dominant beta-thalassemia induced in four Dutch families by the rare cd121 (G-->T) mutation.

PMID 8978308 1997 Erythroblastic inclusions in dominantly inherited beta thalassemias.

PMID 9101288 1997 beta-thalassemia mutations in Japanese and Koreans.

PMID 5672850 1968 Hemoglobin D Los Angeles in two Caucasian families: hemoglobin SD disease and hemoglobin D thalassemia.

PMID 2207008 1990 Isolation and characterization of the translation product of a beta-globin gene nonsense mutation (beta 121 GAA----TAA).

PMID 1740317 1992 Molecular characterization of beta-thalassemia in Czechoslovakia.