Disease: Mental Retardation, Autosomal Dominant 5 ×
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: 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: 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: rs1554121228
rs1554121228 		1.000 0.160 6 33437957 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: 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: 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: 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
dbSNP: rs1554122293
rs1554122293 		1.000 0.160 6 33443611 frameshift variant G/- 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: 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: rs1554122341
rs1554122341 		1.000 0.160 6 33443782 frameshift variant TCAG/- 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: 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: 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: rs1554122735
rs1554122735 		1.000 0.160 6 33446714 frameshift variant TG/- 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 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: 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: 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: rs1561784553
rs1561784553 		1.000 0.160 6 33437783 missense variant G/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
dbSNP: rs1561784560
rs1561784560 		1.000 0.160 6 33437783 frameshift variant G/- 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 0
dbSNP: rs1561784687
rs1561784687 		1.000 0.160 6 33437902 frameshift variant A/- 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: rs1561785003
rs1561785003 		1.000 0.160 6 33438138 frameshift variant -/T 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: rs1561785326
rs1561785326 		1.000 0.160 6 33438484 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: rs1561785573
rs1561785573 		1.000 0.160 6 33438772 splice region variant 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: rs1561786928
rs1561786928 		1.000 0.160 6 33440786 frameshift variant GAGGC/- 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: rs1561787690
rs1561787690 		1.000 0.160 6 33441599 frameshift variant GTCCACTG/- 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: rs1561787845
rs1561787845 		1.000 0.160 6 33441736 frameshift variant -/T 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