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: rs587777162
rs587777162
0.925 0.040 20 63495972 missense variant C/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.800 1.000 4 2012 2017
dbSNP: rs786205865
rs786205865
1.000 20 63493155 missense variant C/G snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
0.800 0
dbSNP: rs786205866
rs786205866
0.807 0.160 20 63495062 missense variant C/T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
0.800 0
dbSNP: rs1555883505
rs1555883505
0.827 0.160 20 63490712 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2009 2017
dbSNP: rs587777162
rs587777162
0.925 0.040 20 63495972 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2009 2017
dbSNP: rs786205866
rs786205866
0.807 0.160 20 63495062 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2009 2017
dbSNP: rs786205866
rs786205866
0.807 0.160 20 63495062 missense variant C/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.700 1.000 4 1988 2016
dbSNP: rs587777162
rs587777162
0.925 0.040 20 63495972 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 1.000 2 2012 2013
dbSNP: rs886039346
rs886039346
1.000 20 63488423 missense variant G/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.700 1.000 2 2016 2017
dbSNP: rs1555883505
rs1555883505
0.827 0.160 20 63490712 missense variant G/A snv
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1555883505
rs1555883505
0.827 0.160 20 63490712 missense variant G/A snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs1555883505
rs1555883505
0.827 0.160 20 63490712 missense variant G/A snv
CUI: C0080274
Disease: Urinary Retention
Urinary Retention
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1555883505
rs1555883505
0.827 0.160 20 63490712 missense variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 1.000 1 2016 2016
dbSNP: rs1555883505
rs1555883505
0.827 0.160 20 63490712 missense variant G/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.700 1.000 1 2016 2016
dbSNP: rs1555883505
rs1555883505
0.827 0.160 20 63490712 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1555883505
rs1555883505
0.827 0.160 20 63490712 missense variant G/A snv
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1555883505
rs1555883505
0.827 0.160 20 63490712 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 1.000 1 2016 2016
dbSNP: rs886042041
rs886042041
1.000 20 63495056 missense variant C/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.700 1.000 1 2016 2016
dbSNP: rs1405800415
rs1405800415
0.925 20 63490687 missense variant G/A snv 4.1E-06
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
0.700 0
dbSNP: rs1405800415
rs1405800415
0.925 20 63490687 missense variant G/A snv 4.1E-06
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.700 0
dbSNP: rs1555883384
rs1555883384
1.000 20 63489032 missense variant C/G snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.700 0
dbSNP: rs1555883501
rs1555883501
1.000 20 63490645 missense variant T/A;C snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.700 0
dbSNP: rs1555883505
rs1555883505
0.827 0.160 20 63490712 missense variant G/A snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
0.700 0
dbSNP: rs1568994522
rs1568994522
1.000 20 63489041 missense variant G/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.700 0
dbSNP: rs310619
rs310619
1.000 0.040 20 63496168 non coding transcript exon variant G/A snv 0.48
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
Mental Disorders 0.010 1.000 1 2020 2020