RS77931234 ACADM

Health Risk Chr 1:75761161
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What This Variant Does
"rs77931234, also known as c.985A&gt
Associated Conditions
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Epileptic spasm
See cases
Inborn genetic diseases
ACADM-related disorder
MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Epileptic spasm
See cases
Inborn genetic diseases
ACADM-related disorder
MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GWAS Studies (3)
Trait Risk Allele OR / Beta P-value Study
Hexanoylcarnitine levels G OR: 18.8 7E-79 PubMed
Metabolite levels (cis-4-decenoate (10:1n6)) G OR: 1.33 2E-18 PubMed
Metabolite levels (nonanoylcarnitine (C9); C9 carnitine; C9_carnitine) G OR: 1.1 3E-17 PubMed
Other Variants in ACADM
rs1225471006 rs121434274 rs121434275 rs121434277 rs387906297 rs864621963 rs121434278 rs121434279 rs121434282 rs121434280
Ask Dr. Hemsworth about this variant