present in Gene: HBB
present in Chromosome: 11
Position on Chromosome: 5227002
Alleles of this Variant: T/A;C;G
rs334 in
HBB gene and
Anemia, Sickle Cell
PMID 25023085 2014 Prevalence of the β(S) gene among scheduled castes, scheduled tribes and other backward class groups in Central India.
PMID 1195378 1975 Crystal structure of sickle-cell deoxyhemoglobin at 5 A resolution.
PMID 24100324 2013 Structure of fully liganded Hb ζ2β2s trapped in a tense conformation.
PMID 13464827 1957 Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin.
PMID 26275168 2016 The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area).
PMID 25023084 2014 Prevalence of sickle cell disease in a pediatric population suffering from severe infections: a Congolese experience.
PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.
rs334 in
HBB gene and
Diabetes
PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.
rs334 in
HBB gene and
Diabetes Mellitus
PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.
rs334 in
HBB gene and
Eosinophil count procedure
PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.
rs334 in
HBB gene and
Glomerular Filtration Rate
PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.
rs334 in
HBB gene and
Hematocrit procedure
PMID 28453575 2017 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.
rs334 in
HBB gene and
Malaria
PMID 22895189 2012 Genome-wide association study indicates two novel resistance loci for severe malaria.
PMID 19465909 2009 Genome-wide and fine-resolution association analysis of malaria in West Africa.
PMID 29381699 2018 Novel genetic polymorphisms associated with severe malaria and under selective pressure in North-eastern Tanzania.
rs334 in
HBB gene and
Mean Corpuscular Volume (result)
PMID 28453575 2017 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.
PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.
rs334 in
HBB gene and
Monocyte count procedure
PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.
rs334 in
HBB gene and
Monocyte count result
PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.
rs334 in
HBB gene and
Muscle hypotonia
PMID 10602954 1999 Imaging features of thalassemia.
PMID 19958185 2009 Multiplex ligation-dependent probe amplification identification of 17 different beta-globin gene deletions (including four novel mutations) in the UK population.
PMID 11545326 2001 Inherited haemoglobin disorders: an increasing global health problem.
PMID 31675503 2019 Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa.
rs334 in
HBB gene and
Red Blood Cell Count measurement
PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.
rs334 in
HBB gene and
Red cell distribution width determination
PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.
PMID 31675503 2019 Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa.
rs334 in
HBB gene and
Uric acid measurement (procedure)
PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
rs334 in
HBB gene and
White Blood Cell Count procedure
PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.
rs334 in
HBB gene and
beta Thalassemia
PMID 20954261 2011 Bone marrow necrosis and sickle cell crisis associated with double heterozygosity for HbS and HbOARAB.
PMID 19061217 2009 Newborn screening for hemoglobinopathies in California.
PMID 2888754 1987 Effect of amino acid at the beta 6 position on surface hydrophobicity, stability, solubility, and the kinetics of polymerization of hemoglobin. Comparisons among Hb A (Glu beta 6), Hb C (Lys beta 6), Hb Machida (Gln beta 6), and Hb S (Val beta 6).
PMID 6583683 1984 Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both.
PMID 1376298 1992 A novel sickle cell mutation of yet another origin in Africa: the Cameroon type.
PMID 2582106 1985 Clinical presentation of homozygous sickle cell disease.
PMID 22028795 2011 In silico analysis of single nucleotide polymorphism (SNPs) in human β-globin gene.
PMID 22625666 2012 Hb S [β6(A3)Glu→Val, GAG>GTG] and β-globin gene cluster haplotype distribution in Mauritania.
PMID 22010933 2011 A novel sickling hemoglobinopathy.