rs2384934
This variant is located in the MYH11 gene.
▶GWAS Catalog Trait Associations (11)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (11)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
docosahexaenoic acid to total fatty acids percentage
level of Sterol ester (27:1/20:3) in blood serum
level of Phosphatidylcholine (16:0_20:3) in blood serum
linoleic acid measurement
degree of unsaturation measurement
docosahexaenoic acid measurement
fatty acid amount
omega-3 polyunsaturated fatty acid measurement
polyunsaturated fatty acid measurement
polyunsaturated fatty acids to monounsaturated fatty acids ratio
▶ClinVar annotation
not provided; Aortic aneurysm, familial thoracic 4; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2; Visceral myopathy 2
View on ClinVar →About MYH11
The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. A chromosomal rearrangement involving this gene is associated with acute myeloid leukemia of the M4Eo subtype. Mutations in this gene are associated with visceral myopathy, megacystis-microcolon-intestinal hypoperistalsis syndrome 2, and familial thoracic aortic aneurysm 4. [provided by RefSeq, May 2022]
View all MYH11 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…