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: rs622288
rs622288 		0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05
CUI: C4540096
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
MYOPATHY, MITOCHONDRIAL, AND ATAXIA 		0.800 0
dbSNP: rs1553295536
rs1553295536 		1.000 1 155613078 missense variant C/A snv
CUI: C4540096
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
MYOPATHY, MITOCHONDRIAL, AND ATAXIA 		0.700 1.000 2 2017 2017
dbSNP: rs762798018
rs762798018 		1.000 1 155610270 missense variant G/A snv 2.0E-04 4.9E-05
CUI: C4540096
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
MYOPATHY, MITOCHONDRIAL, AND ATAXIA 		0.700 1.000 2 2017 2017
dbSNP: rs1208636573
rs1208636573 		0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs1208636573
rs1208636573 		0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1208636573
rs1208636573 		0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs1208636573
rs1208636573 		0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.700 0
dbSNP: rs1208636573
rs1208636573 		0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C0454642
Disease: Receptive language delay
Receptive language delay 		0.700 0
dbSNP: rs1208636573
rs1208636573 		0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1208636573
rs1208636573 		0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		0.700 0
dbSNP: rs1208636573
rs1208636573 		0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C0231687
Disease: Spastic gait
Spastic gait 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1208636573
rs1208636573 		0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C4540096
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
MYOPATHY, MITOCHONDRIAL, AND ATAXIA 		0.700 0
dbSNP: rs1208636573
rs1208636573 		0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1208636573
rs1208636573 		0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C0234518
Disease: Slurred speech
Slurred speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1208636573
rs1208636573 		0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1208636573
rs1208636573 		0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit 		0.700 0
dbSNP: rs1208636573
rs1208636573 		0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C0023015
Disease: Language Disorders
Language Disorders 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1208636573
rs1208636573 		0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1248439783
rs1248439783 		1.000 1 155613206 frameshift variant G/- delins 2.8E-05
CUI: C4540096
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
MYOPATHY, MITOCHONDRIAL, AND ATAXIA 		0.700 0
dbSNP: rs622288
rs622288 		0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs622288
rs622288 		0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs622288
rs622288 		0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05
CUI: C0231687
Disease: Spastic gait
Spastic gait 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs622288
rs622288 		0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs622288
rs622288 		0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.700 0
dbSNP: rs622288
rs622288 		0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05
CUI: C0023015
Disease: Language Disorders
Language Disorders 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0