rs3791675

This is a regulatory region variant variant in the EFEMP1 gene.

▶

GWAS Catalog Trait Associations (11)

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

Inguinal hernia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele C

OR 0.16

p 2.0e-56

N 618,450

Major Consortium StudyLarge GWAS

multi-ancestry

Wei J et al. “Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank.” Hernia : the Journal of Hernias and Abdominal Wall Surgery 26(1):335-348 (2022)

Allele C

OR 1.21

p 3.0e-45

N 275,546

Major Consortium StudyLarge GWAS

European

body weight

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele C

OR 0.05

p 1.0e-49

N 425,541

Major Consortium StudyLarge GWAS

European

body height

He M et al. “Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.” Human Molecular Genetics 24(6):1791-800 (2015)

Allele G

OR 0.07

p 1.0e-38

N 36,227

Meta-analysisLarge GWAS

East Asian

Lango Allen H et al. “Hundreds of variants clustered in genomic loci and biological pathways affect human height.” Nature 467(7317):832-8 (2010)

Allele G

OR —

β 0.053

p 3.0e-35

N 133,653

Large GWAS

European

Chiou JS et al. “Your height affects your health: genetic determinants and health-related outcomes in Taiwan.” Bmc Medicine 20(1):250 (2022)

Allele G

OR 0.07

p 3.0e-37

N 67,452

Large GWAS

East Asian

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.07

p 4.0e-31

N 57,810

Major Consortium StudyLarge GWAS

Hispanic or Latin American

Weedon MN et al. “Genome-wide association analysis identifies 20 loci that influence adult height.” Nature Genetics 40(5):575-83 (2008)

Allele G

OR 0.09

p 2.0e-12

N 13,665

Large GWAS

European

Cho YS et al. “A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.” Nature Genetics 41(5):527-34 (2009)

Allele G

OR 0.42

p 2.0e-9

N 8,842

Large GWAS

East Asian

fat pad mass

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.02

p 3.0e-19

N 394,642

Large GWAS

European

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)

Allele T

OR 0.02

p 7.0e-10

N 337,196

Large GWAS

European

ventral hernia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele C

OR 0.15

p 7.0e-17

N 442,687

Major Consortium StudyLarge GWAS

European

pelvic organ prolapse

Matsunami M et al. “Genome-wide association studies for pelvic organ prolapse in the Japanese population.” Communications Biology 7(1):1188 (2024)

Allele C

OR 1.09

p 2.0e-14

N 651,773

Large GWAS

multi-ancestry

Pujol-Gualdo N et al. “Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse.” Nature Communications 13(1):3584 (2022)

Allele C

OR 0.92

p 1.0e-13

N 574,377

Large GWAS

European

Olafsdottir T et al. “Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank.” Communications Biology 3(1):129 (2020)

Allele C

OR 1.11

p 3.0e-11

N 355,744

Major Consortium StudyLarge GWAS

European

Incisional hernia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele C

OR 0.17

p 7.0e-14

N 448,414

Major Consortium StudyLarge GWAS

European

hip circumference

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.02

p 6.0e-13

N 394,642

Large GWAS

European

BMI-adjusted waist-hip ratio

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 T

OR 0.02

p 1.0e-8

N 186,825

Major Consortium StudyLarge GWAS

European

femoral hernia

Allele C

OR 1.47

p 1.0e-8

N 275,546

Major Consortium StudyLarge GWAS

European

▶

Research that mentions this SNP (2)

▶

Genome-wide association study in Han Chinese identifies three novel loci for human height

Meta-analysisN=8,415Yongchen Hao et al.(2013)· Human Genetics

A meta-analysis of genome-wide association studies in 6,534 Han Chinese subjects identified three novel loci for human height at rs12612930 (ZNF638), rs11021504 (MAML2), and rs11082671 (C18orf12) reaching genome-wide significance (P < 5 × 10⁻⁸), along with confirmation of two previously reported loci (CS and CYP19A1). The study provided supporting evidence for 35 SNPs from previous GWAS and demonstrates substantial genetic overlap between Asian and European populations for this complex trait.

Traits studied:Human height

PubMed DOI Metascience Observatory

▶

Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci

AssociationN=3,571Shu-Feng Lei et al.(2009)· Human Genetics

Genome-wide association study in 618 Northern Chinese and replication in 2,953 Southern Chinese identified 13 contiguous SNPs in the ZNF510/ZNF782 region significantly associated with stature (P = 9.71×10^-5 to 3.11×10^-6, FDR q = 0.036-0.046). The most significant SNP rs10816533 replicated in Southern Chinese (P = 0.029, combined P = 1.55×10^-6), suggesting this is an ethnic-specific locus for height variation in Chinese populations.

Traits studied:Adult heightHuman stature

PubMed DOI Metascience Observatory

About EFEMP1

This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]

rs3791675

GWAS Catalog Trait Associations (11)

Inguinal hernia

body weight

body height

fat pad mass

ventral hernia

pelvic organ prolapse

Incisional hernia

hip circumference

BMI-adjusted waist-hip ratio

femoral hernia

Research that mentions this SNP (2)

About EFEMP1

Community Wiki

Comments