rs12700667
This is a regulatory region variant variant.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
appendicular lean mass
Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)
Allele A
OR 0.02
p 1.0e-17
N 450,243
Major Consortium StudyLarge GWAS
European
endometriosis
Sapkota Y et al. “Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.” Nature Communications 8:15539 (2017)
Allele A
OR 1.10
p 9.0e-10
N 208,903
Meta-analysisLarge GWAS
multi-ancestry
Nyholt DR et al. “Genome-wide association meta-analysis identifies new endometriosis risk loci.” Nature Genetics 44(12):1355-9 (2012)
Allele A
OR 1.18
p 4.0e-9
N 13,997
Meta-analysisLarge GWAS
multi-ancestry
Painter JN et al. “Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.” Nature Genetics 43(1):51-4 (2011)
Allele A
OR 1.20
p 1.0e-9
N 10,254
Large GWAS
European
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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