KIF1C, kinesin family member 1C, 10749

N. diseases: 49; N. variants: 9
Disease: ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) ×
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: rs587777198
rs587777198 		1.000 0.120 17 5002539 missense variant C/T snv 7.0E-06
CUI: C1969796
Disease: ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder)
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2014 2014
dbSNP: rs587777197
rs587777197 		1.000 0.120 17 5022272 stop gained C/T snv
CUI: C1969796
Disease: ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder)
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2014 2014
dbSNP: rs1131690773
rs1131690773 		1.000 0.120 17 5022559 frameshift variant A/- del
CUI: C1969796
Disease: ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder)
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs148934699
rs148934699 		1.000 0.120 17 5022180 missense variant C/T snv 2.9E-03 3.3E-03
CUI: C1969796
Disease: ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder)
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs202232792
rs202232792 		1.000 0.120 17 5023573 missense variant C/T snv 1.5E-03 1.1E-03
CUI: C1969796
Disease: ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder)
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1064796693
rs1064796693 		1.000 0.120 17 5002768 missense variant C/T snv 7.0E-06
CUI: C1969796
Disease: ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder)
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs886041035
rs886041035 		1.000 0.120 17 5000848 splice region variant G/A snv
CUI: C1969796
Disease: ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder)
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0