ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Disease: Fibrodysplasia Ossificans Progressiva ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912679
rs121912679 		1.000 0.040 2 157761077 missense variant C/T snv
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		Musculoskeletal Diseases 0.840 0.857 7 2006 2014