rs121912678, ACVR1

N. diseases: 8
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
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
17 0.851 0.080 2 157774114 missense variant C/G;T snv 0.900 1.000 39 2006 2020
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.851 0.080 2 157774114 missense variant C/G;T snv 0.020 1.000 2 2009 2020
Arthropathy
CUI: C0022408
Disease: Arthropathy
10 0.851 0.080 2 157774114 missense variant C/G;T snv 0.010 1.000 1 2020 2020
Diffuse Intrinsic Pontine Glioma
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
9 0.851 0.080 2 157774114 missense variant C/G;T snv 0.010 1.000 1 2019 2019
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.851 0.080 2 157774114 missense variant C/G;T snv 0.010 1.000 1 2012 2012
Infantile myofibromatosis
CUI: C0432284
Disease: Infantile myofibromatosis
10 0.851 0.080 2 157774114 missense variant C/G;T snv 0.010 1.000 1 2015 2015
Myofibromatosis
CUI: C0206648
Disease: Myofibromatosis
7 0.851 0.080 2 157774114 missense variant C/G;T snv 0.010 1.000 1 2015 2015
Tumor Initiation
CUI: C0598935
Disease: Tumor Initiation
8 0.851 0.080 2 157774114 missense variant C/G;T snv 0.010 1.000 1 2019 2019