rs12639607

This variant is located in the WNT7A gene.

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ClinVar annotation

Benign★★★☆
3 submitters2 publications
View on ClinVar →
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Research that mentions this SNP (1)

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Evaluation of genes involved in limb development, angiogenesis, and coagulation as risk factors for congenital limb deficiencies
AssociationN=1,369Marilyn L. Browne et al.(2012)· American Journal of Medical Genetics Part A

Population-based case-control study of 389 infants with congenital limb deficiencies and 980 controls examining 132 SNPs in 20 candidate genes involved in limb development, angiogenesis, and coagulation. Among non-Hispanic white infants, SNPs in FGF10 (rs10805683: OR=1.99, 95% CI=1.43-2.77; rs13170645: OR=2.37, 95% CI=1.48-3.78) showed significant associations with limb deficiencies after multiple testing correction, with supportive evidence for genes including EN1, WNT7A, CYP26B1, SHH, and TBX5.

Traits studied:Congenital limb deficienciesIntercalary limb deficienciesLongitudinal limb deficienciesTransverse limb deficiencies
PubMedDOIMetascience Observatory

About WNT7A

This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is involved in the development of the anterior-posterior axis in the female reproductive tract, and also plays a critical role in uterine smooth muscle pattering and maintenance of adult uterine function. Mutations in this gene are associated with Fuhrmann and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromes. [provided by RefSeq, Jul 2008]

View all WNT7A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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