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: 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
dbSNP: rs121912680
rs121912680 		1.000 0.040 2 157770384 missense variant C/G;T snv 3.6E-05
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		Musculoskeletal Diseases 0.700 0
dbSNP: rs12997
rs12997 		1.000 0.080 2 157736845 3 prime UTR variant A/G snv 0.45
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
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
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018