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: rs1131692231
rs1131692231 		0.827 0.280 5 157294834 missense variant C/T snv
CUI: C4693925
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 		0.800 1.000 1 2018 2018
dbSNP: rs1554108163
rs1554108163 		1.000 5 157294835 missense variant G/C;T snv
CUI: C4693925
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 		0.800 1.000 1 2018 2018
dbSNP: rs11738611
rs11738611 		5 157345966 intron variant C/A snv 0.22
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs11743919
rs11743919 		5 157327243 intron variant C/A;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs56686215
rs56686215 		5 157316075 intron variant G/A;C snv
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1131692231
rs1131692231 		0.827 0.280 5 157294834 missense variant C/T 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: rs1131692231
rs1131692231 		0.827 0.280 5 157294834 missense variant C/T snv
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1131692231
rs1131692231 		0.827 0.280 5 157294834 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1131692231
rs1131692231 		0.827 0.280 5 157294834 missense variant C/T snv
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1131692231
rs1131692231 		0.827 0.280 5 157294834 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1131692231
rs1131692231 		0.827 0.280 5 157294834 missense variant C/T snv
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1131692231
rs1131692231 		0.827 0.280 5 157294834 missense variant C/T snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1131692231
rs1131692231 		0.827 0.280 5 157294834 missense variant C/T snv
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.700 0
dbSNP: rs1131692231
rs1131692231 		0.827 0.280 5 157294834 missense variant C/T snv
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1131692231
rs1131692231 		0.827 0.280 5 157294834 missense variant C/T snv
CUI: C0086437
Disease: Joint laxity
Joint laxity 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1131692231
rs1131692231 		0.827 0.280 5 157294834 missense variant C/T snv
CUI: C4023588
Disease: Abnormality of the gastrointestinal tract
Abnormality of the gastrointestinal tract 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs1131692231
rs1131692231 		0.827 0.280 5 157294834 missense variant C/T snv
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media 		Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs767007
rs767007 		1.000 0.120 5 157269485 5 prime UTR variant C/A;G snv 0.46
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015