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: rs1553616253
rs1553616253 		1.000 0.080 2 218812423 splice donor variant T/C snv
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553616312
rs1553616312 		1.000 0.080 2 218812922 splice acceptor variant A/G snv
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553616457
rs1553616457 		1.000 0.080 2 218814378 splice acceptor variant A/C;T snv
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553616478
rs1553616478 		1.000 0.080 2 218814543 splice acceptor variant A/G snv
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553616508
rs1553616508 		1.000 0.080 2 218814708 frameshift variant G/- del
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1559392331
rs1559392331 		1.000 0.080 2 218812281 frameshift variant CG/A delins
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs200553205
rs200553205 		1.000 0.080 2 218813096 splice region variant G/A;C;T snv 9.3E-05
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs200883871
rs200883871 		1.000 0.080 2 218814696 missense variant G/C snv 1.1E-04 7.0E-06
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs201346271
rs201346271 		1.000 0.080 2 218812421 missense variant G/C snv 3.2E-05 7.0E-06
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587778778
rs587778778 		1.000 0.080 2 218814187 missense variant G/A snv 2.8E-05 1.0E-04
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587778779
rs587778779 		0.807 0.240 2 218814379 splice acceptor variant G/A;T snv
CUI: C1854301
Disease: Motor delay
Motor delay 		Mental Disorders 0.700 0
dbSNP: rs587778779
rs587778779 		0.807 0.240 2 218814379 splice acceptor variant G/A;T snv
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587778779
rs587778779 		0.807 0.240 2 218814379 splice acceptor variant G/A;T snv
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.700 0
dbSNP: rs587778779
rs587778779 		0.807 0.240 2 218814379 splice acceptor variant G/A;T snv
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587778779
rs587778779 		0.807 0.240 2 218814379 splice acceptor variant G/A;T snv
CUI: C0221253
Disease: Xanthoma tendinosum
Xanthoma tendinosum 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587778779
rs587778779 		0.807 0.240 2 218814379 splice acceptor variant G/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs587778779
rs587778779 		0.807 0.240 2 218814379 splice acceptor variant G/A;T snv
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587778779
rs587778779 		0.807 0.240 2 218814379 splice acceptor variant G/A;T snv
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587778779
rs587778779 		0.807 0.240 2 218814379 splice acceptor variant G/A;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587778779
rs587778779 		0.807 0.240 2 218814379 splice acceptor variant G/A;T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587778779
rs587778779 		0.807 0.240 2 218814379 splice acceptor variant G/A;T snv
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		0.700 0
dbSNP: rs587778779
rs587778779 		0.807 0.240 2 218814379 splice acceptor variant G/A;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs587778779
rs587778779 		0.807 0.240 2 218814379 splice acceptor variant G/A;T snv
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		0.700 0
dbSNP: rs587778779
rs587778779 		0.807 0.240 2 218814379 splice acceptor variant G/A;T snv
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		Nervous System Diseases 0.700 0
dbSNP: rs587778780
rs587778780 		1.000 0.080 2 218814397 missense variant C/G snv
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0