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: rs1366421988
rs1366421988 		1.000 8 1771146 missense variant G/A;T snv 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 3 2015 2017
dbSNP: rs386834124
rs386834124 		0.925 0.120 8 1771263 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 3 2015 2017
dbSNP: rs761621368
rs761621368 		1.000 8 1780408 frameshift variant C/- delins 4.0E-06 3.5E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 3 2015 2017
dbSNP: rs34030778
rs34030778 		1.000 0.080 8 1771328 missense variant C/T snv 2.8E-03 1.1E-02
CUI: C3894553
Disease: response to simvastatin
response to simvastatin 		0.700 1.000 1 2018 2018
dbSNP: rs4875958
rs4875958 		1.000 0.040 8 1772924 missense variant G/A;C snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs6558530
rs6558530 		8 1758041 intron variant A/G snv 0.70
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs143730802
rs143730802 		0.882 0.160 8 1771055 start lost A/G snv 1.2E-05 7.0E-06
CUI: C1856565
Disease: Progressive psychomotor deterioration
Progressive psychomotor deterioration 		0.700 0
dbSNP: rs143730802
rs143730802 		0.882 0.160 8 1771055 start lost A/G snv 1.2E-05 7.0E-06
CUI: C4024945
Disease: Generalized cerebral atrophy/hypoplasia
Generalized cerebral atrophy/hypoplasia 		0.700 0
dbSNP: rs587779411
rs587779411 		0.851 0.160 8 1780498 missense variant C/G;T snv 4.0E-06
CUI: C4024945
Disease: Generalized cerebral atrophy/hypoplasia
Generalized cerebral atrophy/hypoplasia 		0.700 0
dbSNP: rs587779411
rs587779411 		0.851 0.160 8 1780498 missense variant C/G;T snv 4.0E-06
CUI: C1856565
Disease: Progressive psychomotor deterioration
Progressive psychomotor deterioration 		0.700 0
dbSNP: rs104894060
rs104894060 		0.882 0.120 8 1780316 missense variant C/T snv 3.2E-05 7.0E-06
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 8 2004 2016
dbSNP: rs746645358
rs746645358 		1.000 0.120 8 1780415 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 8 2004 2016
dbSNP: rs137852883
rs137852883 		1.000 0.120 8 1771142 missense variant G/A;C;T snv 4.0E-06; 2.4E-05
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2004 2016
dbSNP: rs139003032
rs139003032 		1.000 0.120 8 1780512 missense variant A/G;T snv 2.0E-05; 3.3E-04
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2004 2016
dbSNP: rs28940569
rs28940569 		1.000 0.120 8 1780495 missense variant G/C snv
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2004 2016
dbSNP: rs386834124
rs386834124 		0.925 0.120 8 1771263 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2004 2016
dbSNP: rs386834125
rs386834125 		1.000 0.120 8 1771281 missense variant A/G snv
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2004 2016
dbSNP: rs386834126
rs386834126 		1.000 0.120 8 1771374 missense variant T/G snv
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2004 2016
dbSNP: rs386834127
rs386834127 		1.000 0.120 8 1771469 missense variant C/T snv 4.0E-06
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2004 2016
dbSNP: rs386834129
rs386834129 		1.000 0.120 8 1771100 missense variant C/A;G;T snv 2.0E-05; 4.0E-06
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 7 2004 2016
dbSNP: rs386834130
rs386834130 		1.000 0.120 8 1771527 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2004 2016
dbSNP: rs386834133
rs386834133 		1.000 0.120 8 1780287 missense variant A/G snv
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2004 2016
dbSNP: rs386834134
rs386834134 		1.000 0.120 8 1780317 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 7 2004 2016
dbSNP: rs386834136
rs386834136 		1.000 0.120 8 1780367 missense variant G/A snv 4.4E-05 3.5E-05
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 7 2004 2016
dbSNP: rs781166361
rs781166361 		1.000 0.120 8 1780326 missense variant T/G snv 4.0E-06
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 7 2004 2016