KIF21A, kinesin family member 21A, 55605

N. diseases: 48; N. variants: 8
Disease: Fibrosis Of Extraocular Muscles, Congenital, 1 ×
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: rs121912585
rs121912585 		0.851 0.160 12 39332405 missense variant G/A snv
CUI: C1851102
Disease: Fibrosis Of Extraocular Muscles, Congenital, 1
Fibrosis Of Extraocular Muscles, Congenital, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 4 2003 2014
dbSNP: rs121912586
rs121912586 		0.882 0.160 12 39332404 missense variant C/T snv
CUI: C1851102
Disease: Fibrosis Of Extraocular Muscles, Congenital, 1
Fibrosis Of Extraocular Muscles, Congenital, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 4 2003 2014
dbSNP: rs121912587
rs121912587 		1.000 0.160 12 39332236 missense variant A/G snv
CUI: C1851102
Disease: Fibrosis Of Extraocular Muscles, Congenital, 1
Fibrosis Of Extraocular Muscles, Congenital, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 4 2003 2014
dbSNP: rs121912588
rs121912588 		1.000 0.160 12 39358326 missense variant A/G snv
CUI: C1851102
Disease: Fibrosis Of Extraocular Muscles, Congenital, 1
Fibrosis Of Extraocular Muscles, Congenital, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 4 2003 2014
dbSNP: rs121912589
rs121912589 		1.000 0.160 12 39332608 missense variant T/C snv
CUI: C1851102
Disease: Fibrosis Of Extraocular Muscles, Congenital, 1
Fibrosis Of Extraocular Muscles, Congenital, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 4 2003 2014
dbSNP: rs121912590
rs121912590 		1.000 0.160 12 39332607 missense variant A/C snv
CUI: C1851102
Disease: Fibrosis Of Extraocular Muscles, Congenital, 1
Fibrosis Of Extraocular Muscles, Congenital, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 4 2003 2014
dbSNP: rs864321718
rs864321718 		1.000 0.160 12 39370222 missense variant G/A;C snv 4.0E-06
CUI: C1851102
Disease: Fibrosis Of Extraocular Muscles, Congenital, 1
Fibrosis Of Extraocular Muscles, Congenital, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0