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: rs1205151
rs1205151 		2 174962131 intron variant G/A snv
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs188245701
rs188245701 		2 174986861 intron variant C/T snv 8.4E-05
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
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: 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: 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: 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: 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: C0011981
Disease: Diaphragmatic Eventration
Diaphragmatic Eventration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs121912792
rs121912792 		1.000 0.120 2 174944942 missense variant T/A;C 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 0.800 1.000 1 2008 2008
dbSNP: rs121912793
rs121912793 		0.925 0.120 2 174878011 missense variant A/C snv 7.0E-06
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs121912793
rs121912793 		0.925 0.120 2 174878011 missense variant A/C snv 7.0E-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 0.800 1.000 1 2008 2008
dbSNP: rs121912794
rs121912794 		1.000 0.120 2 174877962 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 0.800 1.000 1 2008 2008
dbSNP: rs121912795
rs121912795 		1.000 0.120 2 174824478 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 0.800 1.000 1 2008 2008
dbSNP: rs121912796
rs121912796 		1.000 0.120 2 174824464 missense variant C/T 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 0.800 1.000 1 2008 2008
dbSNP: rs121912797
rs121912797 		1.000 0.120 2 174812440 missense variant G/T 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 0.800 1.000 1 2008 2008
dbSNP: rs121912798
rs121912798 		1.000 0.120 2 174811538 missense variant C/T 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 0.800 1.000 1 2008 2008
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: 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
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