rs881301

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GWAS Catalog Trait Associations (5)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele C
OR 0.01
p 4.0e-20
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

testosterone measurement

Venkatesh SS et al. “Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.” Nature Genetics 57(5):1107-1118 (2025)
Allele C
OR 0.02
p 5.0e-11
N 235,096
Large GWAS
European
Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele C
OR 0.01
p 6.0e-10
N 425,097
Large GWAS
European

PR interval

van Setten J et al. “PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.” Nature Communications 9(1):2904 (2018)
Allele C
OR 0.80
p 5.0e-10
N 92,340
Meta-analysisLarge GWAS
European

circulating alpha-Klotho measurement

Gergei I et al. “GWAS meta-analysis followed by Mendelian randomization revealed potential control mechanisms for circulating α-Klotho levels.” Human Molecular Genetics 31(5):792-802 (2022)
Allele C
OR 0.12
p 2.0e-8
N 4,376
Meta-analysis
European

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele C
OR 0.01
p 4.0e-8
N 1,122,049
Large GWAS
European
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Research that mentions this SNP (2)

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Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis
AssociationN=205Alexandre R. Vieira et al.(2007)· American Journal of Medical Genetics Part A

This study investigated IRF6 and FGFR1 genes in tooth agenesis (congenital tooth absence) using 116 case/parent trios from Brazil and 89 cases/50 controls from Ohio. The IRF6 V274I variant (rs17015215) was significantly associated with tooth agenesis (P = 0.0006), with an estimated attributable fraction of 16.4%, and preferential association with premolar agenesis. Additional IRF6 markers rs861019 (P = 0.058) and rs7802 (P = 0.004) showed borderline/significant associations. FGFR1 marker rs881301 showed suggestive association with premolar agenesis (P = 0.014). Evidence of gene-gene interactions was found between IRF6 and MSX1 (P = 0.001) and IRF6 and TGFA (P = 0.03).

Traits studied:HypodontiaIncisor agenesisOligodontiaPremolar agenesisTooth agenesis
PubMedDOIMetascience Observatory
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A genome‐wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11‐23
AssociationN=2,031Riley BM et al.(2007)· American Journal of Medical Genetics Part A

A genome-wide linkage scan in 271 Filipino families identified a novel locus at 8p11-23 associated with nonsyndromic cleft lip and palate, with suggestive linkage results in FGFR1 (recessive HLOD 1.07) and BAG4 (recessive HLOD 1.31). Fine mapping of 13 candidate genes within the 8p11-23 region yielded positive results for five genes (FGFR1, BAG4, FZD3, EPHX2, SLC18A1), with FGFR1 being the most biologically plausible candidate given its known role in craniofacial development.

Traits studied:Cleft lipCleft palateNonsyndromic cleft lip and palate
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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