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: 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: 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: 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