rs10013228

This is a intergenic variant variant.

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Research that mentions this SNP (1)

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Association Between Single Nucleotide Polymorphisms in NFATC1 Signaling Pathway Genes and Susceptibility to Congenital Heart Disease in the Chinese Population
AssociationN=570Fengyu Wang et al.(2016)· Pediatric Cardiology

Case-control study of 277 Chinese CHD patients and 293 controls examining 29 SNPs in NFATC1 signaling pathway genes (NFATC1, VEGFR, VEGF, RANKL, FGFR1, BCL-6, ZNRD1). After Bonferroni correction, rs4531631 (RANKL) showed significant association with increased CHD risk (homozygous AA vs. GG: OR 2.38, p=0.001; recessive: OR 2.54, p=0.0003), as did rs13317 (FGFR1) (recessive CC vs. CT/TT: OR 2.06, p=0.00196). Authors suggest these variants may be potential biomarkers for genetic diagnosis and treatment of CHD.

Traits studied:Atrial Septal DefectCongenital Heart DiseaseTetralogy of FallotVentricular Septal Defect
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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