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: rs121434583
rs121434583 		1.000 0.280 10 95606800 missense variant G/A snv
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 4 2000 2014
dbSNP: rs864321669
rs864321669 		1.000 0.160 10 95633040 missense variant C/G snv
CUI: C1832669
Disease: SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 2 2015 2016
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2015 2016
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C1832669
Disease: SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 2 2015 2016
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		0.700 1.000 2 2015 2016
dbSNP: rs1365573219
rs1365573219 		1.000 0.080 10 95626722 missense variant G/C snv 7.0E-06
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4417206
rs4417206 		1.000 0.080 10 95636713 intron variant A/C snv 0.28
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs768323248
rs768323248 		0.925 0.080 10 95637357 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs768323248
rs768323248 		0.925 0.080 10 95637357 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2015 2015
dbSNP: rs869320690
rs869320690 		1.000 10 95613755 missense variant A/G snv
CUI: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2015 2015