rs55920843

This variant is located in the ACVR1C gene.

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GWAS Catalog Trait Associations (7)

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

BMI-adjusted waist circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)

Allele G

OR 0.12

p 3.0e-21

N 219,872

Major Consortium StudyLarge GWAS

European

BMI-adjusted waist-hip ratio

Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)

Allele T

OR 0.09

p 3.0e-20

N 379,501

Meta-analysisLarge GWAS

European

Justice AE et al. “Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.” Nature Genetics 51(3):452-469 (2019)

Allele T

OR 0.07

p 5.0e-10

N 344,369

Large GWAS

multi-ancestry

Allele T

OR 0.12

p 5.0e-19

N 219,872

Major Consortium StudyLarge GWAS

European

waist-hip ratio

Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)

Allele T

OR 0.06

p 2.0e-11

N 697,734

Meta-analysisLarge GWAS

European

reticulocyte amount

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele G

OR 0.07

p 2.0e-10

N 408,112

Large GWAS

European

BMI-adjusted hip circumference

Allele G

OR 0.08

p 7.0e-9

N 186,825

Major Consortium StudyLarge GWAS

European

visceral:gluteofemoral adipose tissue ratio measurement

Agrawal S et al. “Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots.” Nature Communications 13(1):3771 (2022)

Allele T

OR 0.18

p 2.0e-8

N 38,965

Large GWAS

European, East Asian, South Asian, African unspecified, NR

reticulocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele G

OR 0.07

p 2.0e-10

N 408,112

Large GWAS

European

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ClinVar annotation

Benign★★★☆

3 submitters2 publications

not provided; 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]

rs55920843

GWAS Catalog Trait Associations (7)

BMI-adjusted waist circumference

BMI-adjusted waist-hip ratio

waist-hip ratio

reticulocyte amount

BMI-adjusted hip circumference

visceral:gluteofemoral adipose tissue ratio measurement

reticulocyte count

ClinVar annotation

Research that mentions this SNP (1)

About ACVR1C

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