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: rs1554504656
rs1554504656 		1.000 8 23007600 missense variant C/G snv
CUI: C4693899
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 		0.800 1.000 2 2018 2018
dbSNP: rs1554504663
rs1554504663 		0.851 0.080 8 23007627 missense variant G/A snv
CUI: C4693899
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 		0.800 1.000 2 2018 2018
dbSNP: rs1554504678
rs1554504678 		1.000 8 23007707 missense variant A/G snv
CUI: C4693899
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 		0.800 1.000 2 2018 2018
dbSNP: rs1554504681
rs1554504681 		0.925 0.080 8 23007710 missense variant C/T snv
CUI: C4693899
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 		0.800 1.000 2 2018 2018
dbSNP: rs1554504684
rs1554504684 		1.000 8 23007711 missense variant G/A snv
CUI: C4693899
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 		0.800 1.000 2 2018 2018
dbSNP: rs2241261
rs2241261 		0.925 0.120 8 23019226 3 prime UTR variant C/G;T snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 1 2017 2017
dbSNP: rs1563292586
rs1563292586 		1.000 8 23007698 missense variant C/T snv
CUI: C4693899
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 		0.700 1.000 1 2018 2018
dbSNP: rs186490423
rs186490423 		8 22990777 intron variant C/T snv 9.6E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs1554504663
rs1554504663 		0.851 0.080 8 23007627 missense variant G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 0
dbSNP: rs1554504663
rs1554504663 		0.851 0.080 8 23007627 missense variant G/A snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.700 0
dbSNP: rs1554504663
rs1554504663 		0.851 0.080 8 23007627 missense variant G/A snv
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1554504663
rs1554504663 		0.851 0.080 8 23007627 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1554504663
rs1554504663 		0.851 0.080 8 23007627 missense variant G/A snv
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1554504663
rs1554504663 		0.851 0.080 8 23007627 missense variant G/A snv
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1554504663
rs1554504663 		0.851 0.080 8 23007627 missense variant G/A snv
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1554504663
rs1554504663 		0.851 0.080 8 23007627 missense variant G/A snv
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 0
dbSNP: rs1554504663
rs1554504663 		0.851 0.080 8 23007627 missense variant G/A snv
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs1554504663
rs1554504663 		0.851 0.080 8 23007627 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1554504681
rs1554504681 		0.925 0.080 8 23007710 missense variant C/T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1554504684
rs1554504684 		1.000 8 23007711 missense variant G/A snv
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1554504684
rs1554504684 		1.000 8 23007711 missense variant G/A snv
CUI: C0008489
Disease: Chorea
Chorea 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs2241261
rs2241261 		0.925 0.120 8 23019226 3 prime UTR variant C/G;T snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs559635697
rs559635697 		1.000 0.080 8 23007068 missense variant C/A;T snv 2.8E-05
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2008 2008