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: rs398122823
rs398122823 		1.000 12 13866109 frameshift variant -/G delins
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
dbSNP: rs1565455778
rs1565455778 		0.925 12 13567063 frameshift variant A/- del
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
dbSNP: rs1565455778
rs1565455778 		0.925 12 13567063 frameshift variant A/- del
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 0
dbSNP: rs672601376
rs672601376 		0.925 0.040 12 13608760 missense variant A/C snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.800 1.000 3 2014 2017
dbSNP: rs12582848
rs12582848 		1.000 0.040 12 13878511 intron variant A/C snv 0.59
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs16909124
rs16909124 		1.000 0.040 12 13465015 intron variant A/C snv 0.14
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs672601376
rs672601376 		0.925 0.040 12 13608760 missense variant A/C snv
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs672601376
rs672601376 		0.925 0.040 12 13608760 missense variant A/C snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2014 2014
dbSNP: rs1555103652
rs1555103652 		0.882 0.240 12 13569973 missense variant A/C snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555103652
rs1555103652 		0.882 0.240 12 13569973 missense variant A/C snv
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555103652
rs1555103652 		0.882 0.240 12 13569973 missense variant A/C snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555103652
rs1555103652 		0.882 0.240 12 13569973 missense variant A/C snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1555103652
rs1555103652 		0.882 0.240 12 13569973 missense variant A/C snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555103652
rs1555103652 		0.882 0.240 12 13569973 missense variant A/C snv
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555103652
rs1555103652 		0.882 0.240 12 13569973 missense variant A/C snv
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1555103652
rs1555103652 		0.882 0.240 12 13569973 missense variant A/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1555103652
rs1555103652 		0.882 0.240 12 13569973 missense variant A/C snv
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555103652
rs1555103652 		0.882 0.240 12 13569973 missense variant A/C snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1555103652
rs1555103652 		0.882 0.240 12 13569973 missense variant A/C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs890
rs890 		1.000 0.040 12 13562374 3 prime UTR variant A/C;G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 1.000 2 2015 2016
dbSNP: rs876661219
rs876661219 		1.000 12 13571891 missense variant A/C;G snv
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs876661219
rs876661219 		1.000 12 13571891 missense variant A/C;G snv
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs10845851
rs10845851 		1.000 0.040 12 13871835 intron variant A/G snv 7.3E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs11055458
rs11055458 		1.000 0.040 12 13463601 intron variant A/G snv 0.15
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12820037
rs12820037 		1.000 0.040 12 13963180 intron variant A/G snv 0.29
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2015 2015