rs479632

This is a variant in the PITX1 gene that changes a glycine to an alanine.

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ClinVar annotation

Benign★☆☆☆
5 submitters2 publications

Brachydactyly-elbow wrist dysplasia syndrome; Clubfoot; not specified

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Research that mentions this SNP (1)

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Genetic polymorphism of PITX1 in susceptibility to knee osteoarthritis in a Chinese Han population: a case–control study
AssociationN=1,151Jianbo Fan et al.(2011)· Rheumatology International

This case-control study of 581 knee osteoarthritis patients and 570 controls examined the association of PITX1 polymorphism rs479632 with knee OA susceptibility in a Chinese Han population. No significant differences were found in allele or genotype frequencies between cases and controls (P=0.784 for allele; P=0.726 for genotype), leading to the conclusion that rs479632 is not a risk factor for knee OA in this population.

Traits studied:knee osteoarthritis
PubMedDOIMetascience 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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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