RS121917814 AMACR

Health Risk Chr 5:34007865 snv missense variant
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What This Variant Does
"CLNSIG=5
Associated Conditions
Alpha-methylacyl-CoA racemase deficiency
Congenital bile acid synthesis defect 4
Inborn genetic diseases
AMACR-related disorder
Autosomal recessive AMACR-related disorders
Alpha-methylacyl-CoA racemase deficiency
Congenital bile acid synthesis defect 4
Inborn genetic diseases
AMACR-related disorder
Autosomal recessive AMACR-related disorders
Population Frequencies
gnomAD ALL
0.1%
Other Variants in AMACR
rs775128044 rs368427062 rs1361255226 rs769780647 rs200824585 rs780748531 rs1753722683 rs200505839 rs1333701891 rs561675407
Ask Dr. Hemsworth about this variant