rs227731

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GWAS Catalog Trait Associations (5)

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

glomerular filtration rate

Liu H et al. “Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease.” Nature Genetics 54(7):950-962 (2022)
Allele G
OR 8.97
p 3.0e-19
N 1,508,659
Large GWAS
multi-ancestry
Stanzick KJ et al. “Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.” Nature Communications 12(1):4350 (2021)
Allele G
OR 0.00
p 2.0e-18
N 1,201,930
Large GWAS
multi-ancestry
Wuttke M et al. “A catalog of genetic loci associated with kidney function from analyses of a million individuals.” Nature Genetics 51(6):957-972 (2019)
Allele G
OR 0.00
p 7.0e-13
N 765,348
Large GWAS
multi-ancestry

Cleft palate, cleft lip

Yu Y et al. “Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.” Nature Communications 8:14364 (2017)
Allele C
OR 1.19
p 9.0e-9
N 6,084
Large GWAS
East Asian

cleft lip

Mangold E et al. “Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.” Nature Genetics 42(1):24-6 (2010)
Allele C
OR 1.38
p 1.0e-8
N 1,717
Large GWAS
European

orofacial cleft

Ludwig KU et al. “Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.” Nature Genetics 44(9):968-71 (2012)
Allele C
OR 1.23
p 2.0e-8
N 2,383
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians
AssociationN=993Jane C. Figueiredo et al.(2014)· American Journal of Medical Genetics Part A

A targeted genome-wide study examining SNPs in three understudied populations (260 children with orofacial clefts from the DRC, Vietnam, and Philippines) confirmed four cleft susceptibility regions: 1q32.2 (IRF6), 10q25.3 (VAX1), 17q22 (NOG), and 15q13.3. Notable findings include rs10787738 near VAX1 (P=4.98E-03) and rs7987165 on chromosome 13 (P=2.2E-05) in meta-analysis, with risk alleles varying by population and no significant associations found in African populations.

Traits studied:Cleft lip with or without cleft palateNon-syndromic cleft lipNon-syndromic cleft palateOrofacial clefts
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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