rs7157785

This is a intergenic variant variant in the SYNE2 gene.

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GWAS Catalog Trait Associations (27)

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

Sphingomyelin (d18:1/15:0, d16:1/17:0) measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele T
OR 0.36
p 6.0e-154
N 14,296
Large GWAS
European

level of phosphatidylcholine

Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele T
OR 24.83
p 5.0e-136
N 16,839
Large GWAS
European
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 T
OR 0.26
p 3.0e-70
N 13,814
Large GWAS
European

X-08402-to-cholesterol ratio

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR 0.07
p 1.0e-133
N 5,525
Large GWAS
European

level of Sphingomyelin (d32:1) in blood serum

Ottensmann L et al. “Genome-wide association analysis of plasma lipidome identifies 495 genetic associations.” Nature Communications 14(1):6934 (2023)
Allele T
OR 0.51
p 3.0e-95
N 7,174
Large GWAS
European
Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele T
OR 0.50
p 2.0e-34
N 2,624
Large GWAS
European

X-08402 measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR 0.07
p 7.0e-87
N 7,726
Large GWAS
European

sphingolipid level

Hicks AA et al. “Genetic determinants of circulating sphingolipid concentrations in European populations.” Plos Genetics 5(10):e1000672 (2009)
Allele A
OR 0.00
p 9.0e-66
N 4,110
Large GWAS
European

level of Sphingomyelin (d38:1) in blood serum

Ottensmann L et al. “Genome-wide association analysis of plasma lipidome identifies 495 genetic associations.” Nature Communications 14(1):6934 (2023)
Allele T
OR 0.37
p 1.0e-49
N 7,174
Large GWAS
European
Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele T
OR 0.35
p 4.0e-26
N 4,642
Large GWAS
European

level of Sphingomyelin (d40:2) in blood serum

Ottensmann L et al. “Genome-wide association analysis of plasma lipidome identifies 495 genetic associations.” Nature Communications 14(1):6934 (2023)
Allele T
OR 0.34
p 2.0e-41
N 7,174
Large GWAS
European

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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