rs3072

This is a coding sequence variant variant in the GDF7 gene.

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GWAS Catalog Trait Associations (6)

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

uterine prolapse

Pujol Gualdo N et al. “Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.” Nature Medicine 31(5):1626-1634 (2025)

Allele T

OR 0.90

p 1.0e-19

N 234,621

Large GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele T

OR 0.13

p 1.0e-16

N 317,583

Large GWAS

multi-ancestry

Barrett's esophagus

Ong JS et al. “Multitrait genetic association analysis identifies 50 new risk loci for gastro-oesophageal reflux, seven new loci for Barrett's oesophagus and provides insights into clinical heterogeneity in reflux diagnosis.” Gut 71(6):1053-1061 (2022)

Allele T

OR 0.11

p 9.0e-13

N 56,429

Large GWAS

European

Schröder J et al. “GWAS meta-analysis of 16 790 patients with Barrett's oesophagus and oesophageal adenocarcinoma identifies 16 novel genetic risk loci and provides insights into disease aetiology beyond the single marker level.” Gut 72(4):612-623 (2023)

Allele T

OR 0.11

p 4.0e-11

N 43,684

Meta-analysisLarge GWAS

European

pulse pressure measurement

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)

Allele T

OR 0.18

p 2.0e-12

N 526,001

Large GWAS

European

total cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)

Allele C

OR 0.05

p 2.0e-11

N 99,432

Large GWAS

African American or Afro-Caribbean, African unspecified

aorta size trait

Basty N et al. “Cardiovascular measures from abdominal MRI provide insights into abdominal vessel genetic architecture.” Communications Medicine 6(1):70 (2026)

Allele C

OR 0.05

p 2.0e-10

N 35,492

Large GWAS

European

Hernia

Ahmed WU et al. “Shared genetic architecture of hernias: A genome-wide association study with multivariable meta-analysis of multiple hernia phenotypes.” Plos One 17(12):e0272261 (2022)

Allele C

OR 1.04

p 2.0e-8

N 375,822

Meta-analysisLarge GWAS

European

About GDF7

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein may play a role in the differentiation of tendon cells and spinal cord interneurons. A mutation in this gene may be associated with increased risk for Barrett's esophagus and esophageal adenocarcinoma. [provided by RefSeq, Sep 2016]

rs3072

GWAS Catalog Trait Associations (6)

uterine prolapse

Barrett's esophagus

pulse pressure measurement

total cholesterol measurement

aorta size trait

Hernia

About GDF7

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