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: rs1554304254
rs1554304254 		1.000 0.160 6 33420297 frameshift variant AG/- delins
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1554304258
rs1554304258 		6 33420307 frameshift variant G/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 18 2004 2017
dbSNP: rs211456
rs211456 		1.000 0.120 6 33421604 intron variant G/T snv 0.41
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1554119814
rs1554119814 		1.000 0.160 6 33425803 frameshift variant C/- delins
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs9461856
rs9461856 		1.000 0.040 6 33427422 intron variant G/A;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 3 2015 2019
dbSNP: rs9461856
rs9461856 		1.000 0.040 6 33427422 intron variant G/A;T snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs1131691979
rs1131691979 		1.000 0.160 6 33432198 frameshift variant A/- del
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2014 2014
dbSNP: rs1554120498
rs1554120498 		1.000 0.160 6 33432246 frameshift variant -/C delins
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs797045012
rs797045012 		1.000 0.160 6 33432683 splice acceptor variant A/C;G snv
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2013 2013
dbSNP: rs1131692154
rs1131692154 		0.925 0.160 6 33432700 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 18 2004 2017
dbSNP: rs1131692154
rs1131692154 		0.925 0.160 6 33432700 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 2004 2017
dbSNP: rs1131692154
rs1131692154 		0.925 0.160 6 33432700 stop gained C/T snv
CUI: C1854301
Disease: Motor delay
Motor delay 		Mental Disorders 0.700 0
dbSNP: rs1131692154
rs1131692154 		0.925 0.160 6 33432700 stop gained C/T snv
CUI: C1970199
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1131692154
rs1131692154 		0.925 0.160 6 33432700 stop gained C/T snv
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1131692154
rs1131692154 		0.925 0.160 6 33432700 stop gained C/T snv
CUI: C4551761
Disease: Excessive daytime sleepiness
Excessive daytime sleepiness 		0.700 0
dbSNP: rs121918315
rs121918315 		1.000 0.160 6 33432709 stop gained A/T snv
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs397514741
rs397514741 		1.000 0.160 6 33432724 stop gained C/T snv
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2013 2016
dbSNP: rs1554120589
rs1554120589 		1.000 0.160 6 33432781 missense variant C/T snv
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057518352
rs1057518352 		1.000 0.160 6 33432787 stop gained C/T snv
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057519546
rs1057519546 		1.000 0.160 6 33432806 missense variant G/A snv
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1554120894
rs1554120894 		6 33435150 splice acceptor variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 18 2004 2017
dbSNP: rs1561783309
rs1561783309 		1.000 0.160 6 33435180 frameshift variant -/C delins
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057519545
rs1057519545 		1.000 0.040 6 33435225 missense variant G/C snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1554120939
rs1554120939 		1.000 6 33435269 frameshift variant -/CACA delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 2004 2017
dbSNP: rs1554120939
rs1554120939 		1.000 6 33435269 frameshift variant -/CACA delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 18 2004 2017