rs111931861

This is a coding sequence variant variant in the KMT2E gene.

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GWAS Catalog Trait Associations (1)

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

autism spectrum disorder

Grove J et al. “Identification of common genetic risk variants for autism spectrum disorder.” Nature Genetics 51(3):431-444 (2019)

Allele G

OR 1.24

p 3.0e-8

N 46,350

Large GWAS

European

About KMT2E

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

View all KMT2E variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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