rs387906589, ACVR1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Fibrodysplasia Ossificans Progressiva
17 0.925 0.120 2 157766004 missense variant C/A;T snv 0.820 1.000 5 2006 2012
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.925 0.120 2 157766004 missense variant C/A;T snv 0.700 1.000 4 1996 2015
Brain Stem Glioma
CUI: C0677865
Disease: Brain Stem Glioma
45 0.925 0.120 2 157766004 missense variant C/A;T snv 0.700 1.000 1 2016 2016