rs12878001
This is a intergenic variant variant in the SYNE2 gene.
▶GWAS Catalog Trait Associations (22)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (22)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
C14:0 sphingomyelin measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.39
p 9.0e-110
N 10,182
Large GWAS
multi-ancestry
sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0) measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.32
p 1.0e-45
N 6,184
Large GWAS
multi-ancestry
sphingomyelin measurement
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele G
OR 0.35
p 8.0e-36
N 6,136
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 G
OR 0.10
p 5.0e-26
N 5,662
Large GWAS
South Asian
Cadby G et al. “Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.” Nature Communications 13(1):3124 (2022)
Allele G
OR 0.17
p 1.0e-8
N 4,492
Large GWAS
European
Sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0) measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.27
p 1.0e-32
N 6,184
Large GWAS
multi-ancestry
platelet volume
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR 0.03
p 1.0e-28
N 460,935
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.03
p 6.0e-22
N 408,112
Large GWAS
European
blood metabolite level
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.22
p 2.0e-28
N 7,435
Large GWAS
multi-ancestry
level of ceramide
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele G
OR 0.24
p 2.0e-23
N 4,052
Large GWAS
European
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele G
OR 0.28
p 8.0e-15
N 6,136
Large GWAS
European
sphingomyelin (d17:2/16:0, d18:2/15:0) measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.21
p 4.0e-21
N 6,162
Large GWAS
multi-ancestry
sphingomyelin (d18:1/19:0, d19:1/18:0) measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.21
p 9.0e-21
N 6,171
Large GWAS
multi-ancestry
euricoyl sphingomyelin measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.16
p 3.0e-19
N 10,181
Large GWAS
multi-ancestry
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…