KIF5A, kinesin family member 5A, 3798

N. diseases: 112; N. variants: 28
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: rs1678542
rs1678542 		0.790 0.320 12 57574932 intron variant C/G snv 0.42
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.820 1.000 4 2008 2014
dbSNP: rs121434441
rs121434441 		0.882 0.240 12 57569015 missense variant A/G snv
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 8 2002 2011
dbSNP: rs121434442
rs121434442 		1.000 0.080 12 57569274 missense variant C/T snv
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 8 2002 2011
dbSNP: rs121434443
rs121434443 		0.925 0.120 12 57569263 missense variant A/G snv
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 8 2002 2011
dbSNP: rs121434444
rs121434444 		0.882 0.160 12 57569648 missense variant C/T snv 2.8E-05 7.0E-06
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 8 2002 2011
dbSNP: rs1555179087
rs1555179087 		12 57582628 missense variant A/G snv
CUI: C4693609
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 		0.800 1.000 2 2018 2018
dbSNP: rs387907285
rs387907285 		0.925 0.120 12 57568999 missense variant G/A snv
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs387907287
rs387907287 		0.925 0.120 12 57567515 missense variant G/A snv
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs387907288
rs387907288 		0.925 0.080 12 57569275 missense variant G/A snv
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs1678542
rs1678542 		0.790 0.320 12 57574932 intron variant C/G snv 0.42
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.710 1.000 2 2011 2015
dbSNP: rs1555177629
rs1555177629 		0.925 0.120 12 57567514 missense variant C/T snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 4 2009 2015
dbSNP: rs1399145820
rs1399145820 		12 57570107 missense variant A/G snv
CUI: C4693609
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 		0.700 1.000 2 2018 2018
dbSNP: rs754373609
rs754373609 		12 57575096 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C4693609
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 		0.700 1.000 2 2018 2018
dbSNP: rs113247976
rs113247976 		1.000 0.080 12 57581917 missense variant C/G;T snv 4.0E-06; 1.1E-02
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555177629
rs1555177629 		0.925 0.120 12 57567514 missense variant C/T snv
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1555177824
rs1555177824 		1.000 0.080 12 57569269 missense variant C/T snv
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1555177831
rs1555177831 		1.000 0.080 12 57569304 missense variant G/C snv
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1678542
rs1678542 		0.790 0.320 12 57574932 intron variant C/G snv 0.42
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs387907288
rs387907288 		0.925 0.080 12 57569275 missense variant G/A snv
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs775249
rs775249 		12 57583220 splice region variant C/T snv 0.25 0.25
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1057517673
rs1057517673 		1.000 12 57581881 frameshift variant C/- delins
CUI: C4310658
Disease: MYOCLONUS, INTRACTABLE, NEONATAL
MYOCLONUS, INTRACTABLE, NEONATAL 		0.700 0
dbSNP: rs1057519078
rs1057519078 		1.000 12 57581512 frameshift variant C/- delins
CUI: C4310658
Disease: MYOCLONUS, INTRACTABLE, NEONATAL
MYOCLONUS, INTRACTABLE, NEONATAL 		0.700 0
dbSNP: rs1131692233
rs1131692233 		1.000 0.080 12 57569047 missense variant T/C snv
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs113247976
rs113247976 		1.000 0.080 12 57581917 missense variant C/G;T snv 4.0E-06; 1.1E-02
CUI: C4693609
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 		0.700 0
dbSNP: rs121434443
rs121434443 		0.925 0.120 12 57569263 missense variant A/G snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0