rs185819

This is a variant in the TNXB gene that changes a histidine to an arginine.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

neutrophil count

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele T
OR —
p 5.0e-83
N 234,802
Large GWAS
European

basophil count

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele T
OR —
p 1.0e-58
N 234,678
Large GWAS
European

systolic blood pressure

Wain LV et al. “Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.” Hypertension (dallas, Tex. : 1979) 70(3):e4-e19 (2017)
Allele C
OR 0.36
p 1.0e-17
N 150,134
Large GWAS
multi-ancestry

body height

Gudbjartsson DF et al. “Many sequence variants affecting diversity of adult human height.” Nature Genetics 40(5):609-15 (2008)
Allele T
OR 5.20
p 3.0e-8
N 30,968
Large GWAS
European
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ClinVar annotation

Benign★★★☆
8 submitters2 publications

Cardiovascular phenotype; Ehlers-Danlos syndrome (EDS); Ehlers-Danlos syndrome due to tenascin-X deficiency (EDSCLL1); Vesicoureteral reflux 8 (VUR8); not specified

View on ClinVar →
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Research that mentions this SNP (1)

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Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci
AssociationN=3,571Shu-Feng Lei et al.(2009)· Human Genetics

Genome-wide association study in 618 Northern Chinese and replication in 2,953 Southern Chinese identified 13 contiguous SNPs in the ZNF510/ZNF782 region significantly associated with stature (P = 9.71×10^-5 to 3.11×10^-6, FDR q = 0.036-0.046). The most significant SNP rs10816533 replicated in Southern Chinese (P = 0.029, combined P = 1.55×10^-6), suggesting this is an ethnic-specific locus for height variation in Chinese populations.

Traits studied:Adult heightHuman stature
PubMedDOIMetascience Observatory

About TNXB

This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all TNXB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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