Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906589
rs387906589
ACVR1
0.925 0.120 2 157766004 missense variant C/A;T snv
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		0.820 1.000 2 2006 2012
dbSNP: rs387906589
rs387906589
ACVR1
0.925 0.120 2 157766004 missense variant C/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 4 1996 2015
dbSNP: rs387906589
rs387906589
ACVR1
0.925 0.120 2 157766004 missense variant C/A;T snv
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		0.700 1.000 1 2016 2016