rs12881815
This variant is located in the SYNE2 gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
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 A
OR 0.02
p 8.0e-39
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
sphingomyelin measurement
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele A
OR 0.32
p 6.0e-37
N 13,814
Large GWAS
European
diacylglycerol 42:7 measurement
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele A
OR 0.28
p 5.0e-31
N 13,814
Large GWAS
European
triglyceride measurement
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele A
OR 0.24
p 1.0e-21
N 13,814
Large GWAS
European
glycerophospholipid measurement
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele A
OR 0.17
p 1.0e-17
N 13,814
Large GWAS
European
level of phosphatidylcholine
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele A
OR 0.21
p 3.0e-18
N 13,814
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
5 submitters2 publicationsnot specified; Emery-Dreifuss muscular dystrophy 5, autosomal dominant; not provided
View on ClinVar →About SYNE2
The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
View all SYNE2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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