CHN1, chimerin 1, 1123

N. diseases: 112; 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: rs1553475005
rs1553475005 		1.000 0.120 2 174824485 missense variant A/G snv
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1553475005
rs1553475005 		1.000 0.120 2 174824485 missense variant A/G snv
CUI: C0751083
Disease: Duane Retraction Syndrome, Type 2
Duane Retraction Syndrome, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553475005
rs1553475005 		1.000 0.120 2 174824485 missense variant A/G snv
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.700 0
dbSNP: rs1553475005
rs1553475005 		1.000 0.120 2 174824485 missense variant A/G snv
CUI: C1846464
Disease: Globe retraction and deviation on adduction
Globe retraction and deviation on adduction 		0.700 0
dbSNP: rs1558939623
rs1558939623 		0.732 0.480 2 174824479 missense variant C/T snv
CUI: C1848873
Disease: Abnormality of the diaphragm
Abnormality of the diaphragm 		0.700 0
dbSNP: rs1558939623
rs1558939623 		0.732 0.480 2 174824479 missense variant C/T snv
CUI: C0011981
Disease: Diaphragmatic Eventration
Diaphragmatic Eventration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs1558939623
rs1558939623 		0.732 0.480 2 174824479 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1558939623
rs1558939623 		0.732 0.480 2 174824479 missense variant C/T snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1558939623
rs1558939623 		0.732 0.480 2 174824479 missense variant C/T snv
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.700 0
dbSNP: rs1558939623
rs1558939623 		0.732 0.480 2 174824479 missense variant C/T snv
CUI: C0575802
Disease: Small hand
Small hand 		0.700 0
dbSNP: rs1558939623
rs1558939623 		0.732 0.480 2 174824479 missense variant C/T snv
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1558939623
rs1558939623 		0.732 0.480 2 174824479 missense variant C/T snv
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1558939623
rs1558939623 		0.732 0.480 2 174824479 missense variant C/T snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1558939623
rs1558939623 		0.732 0.480 2 174824479 missense variant C/T snv
CUI: C4021789
Disease: Abnormality of the vertebral column
Abnormality of the vertebral column 		0.700 0
dbSNP: rs1558939623
rs1558939623 		0.732 0.480 2 174824479 missense variant C/T snv
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1558939623
rs1558939623 		0.732 0.480 2 174824479 missense variant C/T snv
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1558939623
rs1558939623 		0.732 0.480 2 174824479 missense variant C/T snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0
dbSNP: rs1558939623
rs1558939623 		0.732 0.480 2 174824479 missense variant C/T snv
CUI: C1846464
Disease: Globe retraction and deviation on adduction
Globe retraction and deviation on adduction 		0.700 0
dbSNP: rs1558939623
rs1558939623 		0.732 0.480 2 174824479 missense variant C/T snv
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine 		0.700 0
dbSNP: rs1558939623
rs1558939623 		0.732 0.480 2 174824479 missense variant C/T snv
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		Eye Diseases 0.700 0
dbSNP: rs1558939623
rs1558939623 		0.732 0.480 2 174824479 missense variant C/T snv
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1558939623
rs1558939623 		0.732 0.480 2 174824479 missense variant C/T snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1558939623
rs1558939623 		0.732 0.480 2 174824479 missense variant C/T snv
CUI: C0025988
Disease: Microglossia
Microglossia 		Stomatognathic Diseases 0.700 0
dbSNP: rs387906599
rs387906599 		1.000 0.120 2 174877967 missense variant G/A snv 4.0E-06
CUI: C0751083
Disease: Duane Retraction Syndrome, Type 2
Duane Retraction Syndrome, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs387906600
rs387906600 		1.000 0.120 2 174812441 missense variant G/A snv
CUI: C0751083
Disease: Duane Retraction Syndrome, Type 2
Duane Retraction Syndrome, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0