rs7969633

This variant is located in the ANKLE2 gene.

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GWAS Catalog Trait Associations (1)

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

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)

Allele C

OR 0.01

p 3.0e-10

N 1,122,049

Large GWAS

European

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)

Allele C

OR 0.01

p 9.0e-9

N 694,649

Large GWAS

European

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

Microcephaly 16, primary, autosomal recessive; not provided

View on ClinVar →

About ANKLE2

This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]

View all ANKLE2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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