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: 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
dbSNP: rs587778782
rs587778782 		1.000 0.080 2 218814417 stop gained G/T snv
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587778783
rs587778783 		1.000 0.080 2 218814433 missense variant T/A;C;G snv
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587778784
rs587778784 		1.000 0.080 2 218814463 splice region variant G/A;T snv 4.0E-06; 1.2E-05
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587778785
rs587778785 		1.000 0.080 2 218814544 splice acceptor variant G/A snv 4.0E-06
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587778787
rs587778787 		1.000 0.080 2 218814683 missense variant 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: rs587778790
rs587778790 		1.000 0.080 2 218809625 frameshift variant C/- delins
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587778793
rs587778793 		1.000 0.080 2 218809676 frameshift variant C/- del
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587778794
rs587778794 		1.000 0.080 2 218809689 frameshift variant CCAGTAC/- delins
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587778795
rs587778795 		1.000 0.080 2 218809754 missense variant G/A snv
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587778800
rs587778800 		1.000 0.080 2 218812358 stop gained G/T snv
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587778802
rs587778802 		1.000 0.080 2 218782186 frameshift variant -/C delins
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587778804
rs587778804 		1.000 0.080 2 218812551 splice acceptor variant G/T snv
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0