rs730570

This is a splice region variant variant.

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GWAS Catalog Trait Associations (2)

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

Cleft palate

Huang L et al. “Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft.” Plos Genetics 15(10):e1008357 (2019)
Allele A
OR 1.28
p 7.0e-10
N 5,978
Large GWAS
East Asian

cleft lip

Huang L et al. “Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft.” Plos Genetics 15(10):e1008357 (2019)
Allele A
OR 1.25
p 3.0e-8
N 5,993
Large GWAS
East Asian
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Research that mentions this SNP (1)

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Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas
AssociationN=3,494Parra EJ et al.(2011)· Diabetologia

This genome-wide association study of type 2 diabetes in 967 Mexican cases and 343 normoglycaemic controls, meta-analyzed with a Mexican-American sample (1,804 cases, 780 controls), identified genome-wide significant associations (p<5×10⁻⁸) in HNF1A (rs7305618, OR=1.69) and CDKN2A/CDKN2B (rs1333051, OR=1.32), with suggestive associations in IGF2BP2 (rs1374910, OR=1.30), KCNQ1 (rs2237892, OR=1.26), and a novel locus near C14orf70 (rs730570, OR=1.21). Follow-up in the DIAGRAM+ European dataset confirmed HNF1A and KCNQ1 regions.

Traits studied:Type 2 diabetes
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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