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: rs1555377336
rs1555377336 		1.000 14 77026678 missense variant G/C snv
CUI: C4748127
Disease: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES 		0.800 1.000 2 2018 2019
dbSNP: rs1555377234
rs1555377234 		1.000 14 77025641 frameshift variant A/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2000 2017
dbSNP: rs1555377234
rs1555377234 		1.000 14 77025641 frameshift variant A/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 5 2000 2017
dbSNP: rs1555377234
rs1555377234 		1.000 14 77025641 frameshift variant A/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 5 2000 2017
dbSNP: rs1292724234
rs1292724234 		1.000 14 77027414 stop gained G/A;T snv
CUI: C4748127
Disease: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES 		0.700 0
dbSNP: rs1345176461
rs1345176461 		0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1345176461
rs1345176461 		0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		0.700 0
dbSNP: rs1345176461
rs1345176461 		0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1345176461
rs1345176461 		0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0085639
Disease: Falls
Falls 		0.700 0
dbSNP: rs1345176461
rs1345176461 		0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C4748127
Disease: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES 		0.700 0
dbSNP: rs1345176461
rs1345176461 		0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0566620
Disease: Nasal voice
Nasal voice 		0.700 0
dbSNP: rs1345176461
rs1345176461 		0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0
dbSNP: rs1345176461
rs1345176461 		0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		0.700 0
dbSNP: rs1345176461
rs1345176461 		0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C1861239
Disease: Plantar flexion contractures
Plantar flexion contractures 		0.700 0
dbSNP: rs1345176461
rs1345176461 		0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1345176461
rs1345176461 		0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		Infections; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1345176461
rs1345176461 		0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1345176461
rs1345176461 		0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 0
dbSNP: rs1345176461
rs1345176461 		0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0027066
Disease: Myoclonus
Myoclonus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1345176461
rs1345176461 		0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C1858427
Disease: Limited extraocular movements
Limited extraocular movements 		0.700 0
dbSNP: rs1345176461
rs1345176461 		0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		0.700 0
dbSNP: rs1345176461
rs1345176461 		0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1345176461
rs1345176461 		0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1345176461
rs1345176461 		0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		Nervous System Diseases 0.700 0
dbSNP: rs1345176461
rs1345176461 		0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		0.700 0