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: rs121912678
rs121912678
0.851 0.080 2 157774114 missense variant C/G;T snv
Fibrodysplasia Ossificans Progressiva
Musculoskeletal Diseases 0.900 1.000 39 2006 2020
dbSNP: rs121912679
rs121912679
1.000 0.040 2 157761077 missense variant C/T snv
Fibrodysplasia Ossificans Progressiva
Musculoskeletal Diseases 0.840 0.857 7 2006 2014
dbSNP: rs387906589
rs387906589
0.925 0.120 2 157766004 missense variant C/A;T snv
Fibrodysplasia Ossificans Progressiva
Musculoskeletal Diseases 0.820 1.000 5 2006 2012
dbSNP: rs387906588
rs387906588
1.000 0.040 2 157766005 missense variant C/A;T snv
Fibrodysplasia Ossificans Progressiva
Musculoskeletal Diseases 0.800 1.000 3 2006 2009
dbSNP: rs387906590
rs387906590
1.000 0.040 2 157761020 missense variant C/G snv
Fibrodysplasia Ossificans Progressiva
Musculoskeletal Diseases 0.800 1.000 3 2006 2009
dbSNP: rs387906591
rs387906591
1.000 0.040 2 157774126 missense variant C/A snv
Fibrodysplasia Ossificans Progressiva
Musculoskeletal Diseases 0.800 1.000 3 2006 2009
dbSNP: rs797045135
rs797045135
1.000 0.040 2 157774144 missense variant A/G snv
Fibrodysplasia Ossificans Progressiva
Musculoskeletal Diseases 0.720 1.000 2 2011 2014
dbSNP: rs863224846
rs863224846
0.882 0.160 2 157770386 missense variant T/C;G snv 4.0E-06
Fibrodysplasia Ossificans Progressiva
Musculoskeletal Diseases 0.710 < 0.001 1 2015 2015
dbSNP: rs387906589
rs387906589
0.925 0.120 2 157766004 missense variant C/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 1996 2015
dbSNP: rs1057519875
rs1057519875
0.925 0.120 2 157770385 missense variant C/A snv
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519875
rs1057519875
0.925 0.120 2 157770385 missense variant C/A snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs387906589
rs387906589
0.925 0.120 2 157766004 missense variant C/A;T snv
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs863224846
rs863224846
0.882 0.160 2 157770386 missense variant T/C;G snv 4.0E-06
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs863224846
rs863224846
0.882 0.160 2 157770386 missense variant T/C;G snv 4.0E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs121912680
rs121912680
1.000 0.040 2 157770384 missense variant C/G;T snv 3.6E-05
Fibrodysplasia Ossificans Progressiva
Musculoskeletal Diseases 0.700 0
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: rs1064796674
rs1064796674
1.000 0.040 2 157760946 missense variant T/C snv
Fibrodysplasia Ossificans Progressiva
Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1146031
rs1146031
0.925 0.200 2 157770468 synonymous variant C/T snv 0.97 0.92
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1146031
rs1146031
0.925 0.200 2 157770468 synonymous variant C/T snv 0.97 0.92
Fibrodysplasia Ossificans Progressiva
Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121912678
rs121912678
0.851 0.080 2 157774114 missense variant C/G;T snv
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis
Neoplasms 0.010 1.000 1 2015 2015
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
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: C0206648
Disease: Myofibromatosis
Myofibromatosis
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs121912678
rs121912678
0.851 0.080 2 157774114 missense variant C/G;T snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2012 2012
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