RS121912678 ACVR1

Health Risk Chr 2:157774113 snv missense variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Progressive myositis ossificans
Inborn genetic diseases
Epicanthus
ACVR1-related disorder
Ependymoma
Diffuse pediatric-type high-grade glioma
H3-wildtype and IDH-wildtype
Diffuse midline glioma
H3 K27M-mutant
Progressive myositis ossificans
Inborn genetic diseases
Epicanthus
ACVR1-related disorder
Ependymoma
Diffuse pediatric-type high-grade glioma
Population Frequencies
gnomAD ALL
100%
Other Variants in ACVR1
rs121912679 rs121912680 rs387906588 rs387906589 rs387906590 rs387906591 rs797045135 rs863224846 rs371512479 rs748424210
Ask Dr. Hemsworth about this variant