rs3805663

This is a regulatory region variant variant in the PITX1 gene.

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GWAS Catalog Trait Associations (2)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele A

OR 0.02

p 1.0e-300

N 5,314,291

Large GWAS

European, Hispanic or Latin American, East Asian, African unspecified, South Asian

testicular carcinoma

Ruark E et al. “Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.” Nature Genetics 45(6):686-9 (2013)

Allele T

OR 1.25

p 2.0e-8

N 5,932

Large GWAS

European

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Research that mentions this SNP (1)

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Variants in BAK1, SPRY4, and GAB2 are associated with pediatric germ cell tumors: A report from the children's oncology group

AssociationN=366Marcotte EL et al.(2017)· Genes, Chromosomes and Cancer

Case-parent triad study of 366 pediatric and adolescent germ cell tumor (GCT) cases examining 26 SNPs from adult testicular GCT GWAS. Three variants reached multiple testing-corrected significance: SPRY4 rs4624820 (OR=0.70, protective), BAK1 rs210138 (OR=1.70, particularly strong for testicular tumors OR=3.31), and GAB2 rs948662 (OR=1.56). Maternal effects observed for KITLG rs4474514 (OR=1.66) and rs7221274 near TEX14/RAD51C/PPM1E (OR=1.63).

Traits studied:Adolescent germ cell tumorsExtragonadal germ cell tumorsGerm cell tumorsGerminomasIntracranial germ cell tumorsOvarian germ cell tumorsPediatric germ cell tumorsTeratomasTesticular germ cell tumorsYolk sac tumors

PubMed DOI Metascience Observatory

About PITX1

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq, Jul 2008]