rs11872184 - SMCHD1

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-Wide Association Study of Maternal and Inherited Loci for Conotruncal Heart Defects - Unknown journal (n.d.) · Unknown authors · PubMed 24800985

  ABSTRACT: Conotruncal and related heart defects (CTDs) are a group of serious and relatively common birth defects. Although both maternal and inherited genotypes are thought to play a role in the etiology of CTDs, few specific genetic risk factors have been identified. To determine whether common variants acting through the genotype of the mother (e.g. via an in utero effect) or the case are associated with CTDs, we conducted a genome-wide association study of 750 CTD case-parent triads, with follow-up analyses in 358 independent triads. Log-linear analyses were used to assess the association of CTDs with the genotypes of both the mother and case. No association achieved genomewide significance in either the discovery or combined (discovery+follow-up) samples. However, three loci with p-va

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