ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Disease: Myofibromatosis ×
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: C0206648
Disease: Myofibromatosis
Myofibromatosis 		Neoplasms 0.010 1.000 1 2015 2015