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: rs121912679
rs121912679 		1.000 0.040 2 157761077 missense variant C/T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2014 2014
dbSNP: rs121912679
rs121912679 		1.000 0.040 2 157761077 missense variant C/T snv
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		Mental Disorders 0.010 < 0.001 1 2014 2014
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: 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: rs863224846
rs863224846 		0.882 0.160 2 157770386 missense variant T/C;G snv 4.0E-06
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		Musculoskeletal Diseases 0.710 < 0.001 1 2015 2015