rs72781679

This is a intron variant variant in the MFSD2B gene.

GWAS Catalog Trait Associations (5)

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

lymphocyte count

Allele A
OR 0.05
p 2.0e-70
N 394,642
Large GWAS
European
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.06
p 1.0e-61
N 445,573
Large GWAS
multi-ancestry
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.05
p 1.0e-60
N 408,112
Large GWAS
European

erythrocyte count

Allele A
OR 0.04
p 6.0e-59
N 928,679
Large GWAS
multi-ancestry
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.04
p 3.0e-41
N 408,112
Large GWAS
European

hemoglobin A1 measurement

Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.05
p 2.0e-53
N 415,403
Large GWAS
multi-ancestry

brain attribute

van der Meer D et al. The genetic architecture of human cortical folding. Science Advances 7(51):eabj9446 (2021)
Allele A
OR 7.89
p 3.0e-15
N 33,748
Large GWAS
European

appendicular lean mass

Hernandez Cordero AI et al. Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2. American Journal of Human Genetics 105(6):1222-1236 (2019)
Allele A
OR 0.07
p 2.0e-12
N 181,862
Large GWAS
European

About MFSD2B

Enables sphingolipid transporter activity. Involved in lipid transport. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all MFSD2B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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