RS138119149 AARS2

Health Risk Chr 6:44304512
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What This Variant Does
"CLNSIG=5
Associated Conditions
Combined oxidative phosphorylation defect type 8
Inborn genetic diseases
Pulmonary hypoplasia
Mitochondrial disease
Leukoencephalopathy
progressive
with ovarian failure
AARS2-related disorder
Combined oxidative phosphorylation defect type 8
Inborn genetic diseases
Pulmonary hypoplasia
Mitochondrial disease
Leukoencephalopathy
progressive
with ovarian failure
Other Variants in AARS2
rs387907061 rs78410483 rs587777589 rs587777590 rs587777591 rs146924860 rs747312867 rs200781477 rs863223859 rs775065697
Ask Dr. Hemsworth about this variant