ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Disease: Congenital Abnormality ×
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: rs121912678
rs121912678 		0.851 0.080 2 157774114 missense variant C/G;T snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.020 1.000 2 2009 2020