rs56188432

This variant is located in the ACVR1C gene.

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GWAS Catalog Trait Associations (2)

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

BMI-adjusted waist-hip ratio

Akbari P et al. “Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.” Nature Communications 13(1):4844 (2022)

Allele G

OR —

β 0.170

p 4.0e-17

N 618,375

Large GWAS

multi-ancestry

birth weight

Warrington NM et al. “Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.” Nature Genetics 51(5):804-814 (2019)

Allele G

OR 0.26

p 1.0e-16

N 321,223

Large GWAS

multi-ancestry

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ClinVar annotation

Likely Benign

1 submitter

ACVR1C-related disorder

View on ClinVar →

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Research that mentions this SNP (1)

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Admixture mapping identifies African and Amerindigenous local ancestry loci associated with fetal growth

AssociationN=1,935Fasil Tekola-Ayele et al.(2021)· Human Genetics

A genome-wide admixture mapping study of 1,935 pregnant women from diverse ancestral backgrounds identified 10 African ancestry loci and 3 Amerindigenous ancestry loci associated with fetal growth measures. The lead variant rs13030825 (GALNT13) was strongly associated with longer humerus length in African Americans (β=0.44, P=6.25×10⁻⁶ at week 27; β=0.39, P=7.72×10⁻⁵ at week 40), with an FST of 0.55 between African and European populations. The findings identify ancestry-related maternal genetic loci influencing fetal growth across gestation.

Traits studied:Abdominal circumferenceBiparietal diameterBirth weightEstimated fetal weightFemur lengthFetal growth measuresHead circumferenceHumerus length

PubMed DOI Metascience Observatory

About ACVR1C

ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]