rs2240751
This is a protein-altering variant in the MFSD12 gene.
▶GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
eosinophil measurement
Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele G
OR 0.88
p 4.0e-91
N 30,328
Large GWAS
European
uric acid measurement
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 G
OR 0.04
p 3.0e-38
N 153,950
Large GWAS
East Asian
Park JS et al. “Genome-wide meta-analysis revealed several genetic loci associated with serum uric acid levels in Korean population: an analysis of Korea Biobank data.” Journal of Human Genetics 67(4):231-237 (2022)
Allele G
OR —
p 2.0e-17
N 60,585
Meta-analysisLarge GWAS
East Asian
neutrophil measurement
Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele G
OR 0.29
p 4.0e-14
N 38,336
Large GWAS
European
aging rate
Lee SG et al. “Identification of Genetic Loci Associated with Facial Wrinkles in a Large Korean Population.” The Journal of Investigative Dermatology 142(10):2824-2827 (2022)
Allele G
OR 1.02
p 2.0e-13
N 11,079
Large GWAS
East Asian
urate measurement
Cho C et al. “Large-scale cross-ancestry genome-wide meta-analysis of serum urate.” Nature Communications 15(1):3441 (2024)
Allele A
OR 0.04
p 2.0e-13
N 1,029,323
Meta-analysisLarge GWAS
multi-ancestry
aspartate aminotransferase measurement
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 G
OR 0.02
p 1.0e-10
N 153,950
Large GWAS
East Asian
Abnormality of skin pigmentation
Kim B et al. “Mapping and annotating genomic loci to prioritize genes and implicate distinct polygenic adaptations for skin color.” Nature Communications 15(1):4874 (2024)
Allele G
OR 0.04
p 3.0e-8
N 48,433
Large GWAS
East Asian
facial pigmentation
Shin JG et al. “GWAS Analysis of 17,019 Korean Women Identifies the Variants Associated with Facial Pigmented Spots.” The Journal of Investigative Dermatology 141(3):555-562 (2021)
Allele G
OR 0.67
p 1.0e-8
N 11,079
Large GWAS
East Asian
About MFSD12
Enables cysteine transmembrane transporter activity. Involved in cysteine transmembrane transport; pigment metabolic process involved in pigmentation; and regulation of melanin biosynthetic process. Located in lysosome and melanosome. Part of late endosome. [provided by Alliance of Genome Resources, Jul 2025]
View all MFSD12 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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