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.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
lymphocyte count
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
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
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
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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