rs13257021
This is a upstream gene variant variant in the NDUFAF6 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
monocyte 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 0.11
p 1.0e-56
N 39,586
Large GWAS
European
balding measurement
Yap CX et al. “Dissection of genetic variation and evidence for pleiotropy in male pattern baldness.” Nature Communications 9(1):5407 (2018)
Allele A
OR 0.02
p 7.0e-10
N 205,327
Large GWAS
European
type 2 diabetes mellitus
Huerta-Chagoya A et al. “Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.” Nature Genetics 56(11):2370-2379 (2024)
Allele A
OR 0.06
p 2.0e-13
N 421,743
Large GWAS
multi-ancestry
Mahajan A et al. “Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.” Nature Genetics 54(5):560-572 (2022)
Allele A
OR 0.05
p 3.0e-14
N 251,740
Large GWAS
European
About NDUFAF6
This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]
View all NDUFAF6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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