ZC4H2, zinc finger C4H2-type containing, 55906

N. diseases: 151; N. variants: 13
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: rs1057520297
rs1057520297 		1.000 0.240 X 64921845 missense variant A/T snv
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2013 2015
dbSNP: rs1057520299
rs1057520299 		1.000 0.240 X 64976325 missense variant C/T snv 9.5E-06
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2013 2015
dbSNP: rs398122938
rs398122938 		1.000 0.240 X 64921855 missense variant C/G snv
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2013 2015
dbSNP: rs398122939
rs398122939 		1.000 0.240 X 64917857 missense variant G/A snv
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2013 2015
dbSNP: rs879255235
rs879255235 		1.000 0.240 X 64917865 missense variant C/T snv
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2013 2015
dbSNP: rs879255236
rs879255236 		1.000 0.240 X 64917821 missense variant G/A snv
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2013 2015
dbSNP: rs1555933851
rs1555933851 		1.000 X 64919152 frameshift variant -/G delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 2 2013 2015
dbSNP: rs1555933851
rs1555933851 		1.000 X 64919152 frameshift variant -/G delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 2 2013 2015
dbSNP: rs797044863
rs797044863 		1.000 X 64921894 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2013 2015
dbSNP: rs797044863
rs797044863 		1.000 X 64921894 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 2 2013 2015
dbSNP: rs797044863
rs797044863 		1.000 X 64921894 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 2 2013 2015
dbSNP: rs1057520298
rs1057520298 		1.000 0.240 X 64921812 splice region variant C/G;T snv
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1131691616
rs1131691616 		1.000 0.240 X 64921843 stop gained G/A snv
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1260869746
rs1260869746 		1.000 0.240 X 64919176 stop gained G/A;T snv 1.9E-05
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555945816
rs1555945816 		1.000 0.240 X 64976355 frameshift variant AT/- del
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs750367160
rs750367160 		1.000 0.240 X 64920099 inframe deletion TTC/- delins 5.6E-06
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0