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: 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: 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: 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: 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
dbSNP: rs1554121353
rs1554121353 		6 33438527 frameshift variant A/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 18 2004 2017
dbSNP: rs1554121353
rs1554121353 		6 33438527 frameshift variant A/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 18 2004 2017
dbSNP: rs1554121729
rs1554121729 		1.000 6 33440943 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 2004 2017
dbSNP: rs1554122252
rs1554122252 		1.000 6 33443341 frameshift variant CT/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 18 2004 2017
dbSNP: rs1554122252
rs1554122252 		1.000 6 33443341 frameshift variant CT/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 2004 2017
dbSNP: rs1554122252
rs1554122252 		1.000 6 33443341 frameshift variant CT/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 18 2004 2017
dbSNP: rs1554122402
rs1554122402 		6 33443961 splice donor variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 18 2004 2017
dbSNP: rs1554122458
rs1554122458 		6 33444450 frameshift variant -/A delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 18 2004 2017
dbSNP: rs1554122458
rs1554122458 		6 33444450 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 18 2004 2017
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: 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: rs1554121189
rs1554121189 		1.000 0.160 6 33437760 frameshift variant -/TGGATGAC 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 1.000 2 2013 2013
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: rs869312674
rs869312674 		0.925 0.200 6 33446569 splice region 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 1.000 2 2014 2017
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: 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: 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: rs2247385
rs2247385 		1.000 0.120 6 33453800 intron variant T/C snv 0.42
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: rs397515320
rs397515320 		1.000 0.160 6 33442990 frameshift variant T/- 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 2009 2009