DYNC1H1, dynein cytoplasmic 1 heavy chain 1, 1778

N. diseases: 174; N. variants: 39
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: rs587780564
rs587780564 		0.882 0.080 14 101986017 missense variant C/T snv
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 7 2012 2017
dbSNP: rs387906738
rs387906738 		0.882 0.080 14 101980506 missense variant A/G snv
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 6 2012 2017
dbSNP: rs387906741
rs387906741 		1.000 0.080 14 101985975 missense variant A/C snv
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 6 2012 2017
dbSNP: rs387906742
rs387906742 		1.000 0.080 14 101986236 missense variant A/G snv
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 6 2012 2017
dbSNP: rs387906743
rs387906743 		1.000 0.080 14 101991567 missense variant A/G snv
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 6 2012 2017
dbSNP: rs387906739
rs387906739 		0.882 0.200 14 102039416 missense variant A/C snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.800 1.000 5 2010 2017
dbSNP: rs387906740
rs387906740 		0.882 0.200 14 102002546 missense variant G/A snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.800 1.000 5 2010 2017
dbSNP: rs397509410
rs397509410 		1.000 14 102032396 missense variant G/T snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.800 1.000 5 2010 2017
dbSNP: rs397509411
rs397509411 		1.000 14 102033136 missense variant G/A snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.800 1.000 5 2010 2017
dbSNP: rs397509412
rs397509412 		1.000 14 102032419 missense variant G/A snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.800 1.000 5 2010 2017
dbSNP: rs387906738
rs387906738 		0.882 0.080 14 101980506 missense variant A/G snv
CUI: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 		0.800 1.000 3 2011 2015
dbSNP: rs587780564
rs587780564 		0.882 0.080 14 101986017 missense variant C/T snv
CUI: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 		0.800 1.000 3 2011 2015
dbSNP: rs1057518083
rs1057518083 		0.851 0.120 14 101986552 missense variant C/T snv
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs797044901
rs797044901 		1.000 14 102002694 missense variant G/A;T snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.800 0
dbSNP: rs587780564
rs587780564 		0.882 0.080 14 101986017 missense variant C/T snv
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 1 2015 2015
dbSNP: rs713993043
rs713993043 		0.925 0.080 14 101980380 missense variant G/A;T snv
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		Nervous System Diseases 0.710 1.000 1 2015 2015
dbSNP: rs1555408829
rs1555408829 		1.000 14 101994794 missense variant T/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 18 1998 2018
dbSNP: rs1555408829
rs1555408829 		1.000 14 101994794 missense variant T/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1998 2018
dbSNP: rs587780564
rs587780564 		0.882 0.080 14 101986017 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 18 1998 2018
dbSNP: rs879253881
rs879253881 		1.000 14 102008244 missense variant C/T snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 1.000 5 2010 2017
dbSNP: rs1555410941
rs1555410941 		1.000 14 102027712 missense variant G/A snv
CUI: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 		0.700 1.000 3 2011 2015
dbSNP: rs1057518083
rs1057518083 		0.851 0.120 14 101986552 missense variant C/T snv
CUI: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 		0.700 1.000 2 2016 2017
dbSNP: rs1555411378
rs1555411378 		0.925 0.080 14 102033157 missense variant C/T snv
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555411378
rs1555411378 		0.925 0.080 14 102033157 missense variant C/T snv
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 1.000 1 2018 2018
dbSNP: rs387906738
rs387906738 		0.882 0.080 14 101980506 missense variant A/G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2011 2011