rs7258249

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (7)

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

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 A
OR 0.22
p 3.0e-37
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 A
OR 0.23
p 2.0e-24
N 4,642
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 G
OR 0.00
p 2.0e-27
N 4,110
Large GWAS
European

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 A
OR 0.19
p 3.0e-23
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 A
OR 0.07
p 2.0e-10
N 5,662
Large GWAS
South Asian

serum metabolite level

Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)
Allele G
OR 0.17
p 3.0e-11
N 3,926
Large GWAS
Hispanic or Latin American

palmitoyl dihydrosphingomyelin (d18:0/16:0) 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 A
OR 0.06
p 3.0e-10
N 14,296
Large GWAS
European

Red cell distribution width

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.01
p 3.0e-10
N 408,112
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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