ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
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: rs1064796674
rs1064796674 		1.000 0.040 2 157760946 missense variant T/C snv
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121912678
rs121912678 		0.851 0.080 2 157774114 missense variant C/G;T snv
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma 		0.010 1.000 1 2019 2019
dbSNP: rs121912678
rs121912678 		0.851 0.080 2 157774114 missense variant C/G;T snv
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs121912678
rs121912678 		0.851 0.080 2 157774114 missense variant C/G;T snv
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		Musculoskeletal Diseases 0.900 1.000 39 2006 2020
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
dbSNP: rs121912678
rs121912678 		0.851 0.080 2 157774114 missense variant C/G;T snv
CUI: C0022408
Disease: Arthropathy
Arthropathy 		Musculoskeletal Diseases 0.010 1.000 1 2020 2020