Disease: Mental Retardation, Autosomal Dominant 5 ×
Source: CURATED ×
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: rs1554122689
rs1554122689 		1.000 0.160 6 33446566 intron 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: 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: rs869312955
rs869312955 		1.000 0.160 6 33446710 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 2015 2016
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: rs1060503383
rs1060503383 		0.882 0.200 6 33441318 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: rs1060503386
rs1060503386 		0.925 0.200 6 33440913 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: rs1135401805
rs1135401805 		1.000 0.160 6 33443742 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: 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: rs121918316
rs121918316 		1.000 0.160 6 33440787 stop gained C/G;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: rs1554120978
rs1554120978 		1.000 0.160 6 33435590 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: rs1554121443
rs1554121443 		0.742 0.280 6 33438873 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: rs1554122296
rs1554122296 		1.000 0.160 6 33443625 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: rs1554122305
rs1554122305 		1.000 0.160 6 33443676 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: rs1554122363
rs1554122363 		1.000 0.160 6 33443829 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: rs1554122888
rs1554122888 		1.000 0.160 6 33447859 stop gained G/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: rs749188610
rs749188610 		1.000 0.160 6 33443451 stop gained C/G;T snv 4.0E-06
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: rs397514670
rs397514670 		1.000 0.160 6 33440737 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 0.800 1.000 6 2009 2016
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: rs1060503384
rs1060503384 		1.000 0.160 6 33441612 missense variant G/A snv 4.0E-06
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: rs1064795331
rs1064795331 		1.000 0.160 6 33440769 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: rs1480178032
rs1480178032 		1.000 0.160 6 33438874 missense variant G/A;C snv 4.0E-06
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: rs1485749468
rs1485749468 		1.000 0.160 6 33441184 missense 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 0
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: rs1554121265
rs1554121265 		1.000 0.160 6 33438110 missense variant T/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 0
dbSNP: rs1554121453
rs1554121453 		1.000 0.160 6 33438895 missense variant T/C 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