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SNP: rs9399137

linkouts : SNPedia

Nearby Genes

HBS1L - HBS1-like translational GTPase
This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009]
MYB - v-myb avian myeloblastosis viral oncogene homolog
This gene encodes a transcription factor that is a member of the MYB family of transcription factor genes. The protein contains three domains, an N-terminal DNA-binding domain, a central transcriptional activation domain and a C-terminal domain involved in transcriptional repression. This protein plays an essential role in the regulation of hematopoiesis and may play a role in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]


Associated Traits (number of studies)

Hematology traits (2)Platelet count (2)F-cell distribution (1)Glycated hemoglobin levels (1)HbA2 levels (1)Mean corpuscular hemoglobin (1)Mean corpuscular volume (1)

Association Studies

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Allele
Positive
Allele
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Trait Study



Search Results from Open Access Papers

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