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: rs2033962
rs2033962 		1.000 0.040 2 157781929 intron variant A/C;T snv
CUI: C4552766
Disease: Miscarriage
Miscarriage 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2010 2010
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: 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: 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: 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: 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