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: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		Nervous System Diseases 0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C0578038
Disease: Thin lips
Thin lips 		0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		Musculoskeletal Diseases; Wounds and Injuries 0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C1834696
Disease: Hyporeflexia of lower limbs
Hyporeflexia of lower limbs 		0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C0013132
Disease: Drooling
Drooling 		Stomatognathic Diseases 0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C0085636
Disease: Photophobia
Photophobia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C1849683
Disease: No social interaction
No social interaction 		Mental Disorders 0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C3808046
Disease: Breathing dysregulation
Breathing dysregulation 		0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C1856477
Disease: Slowed horizontal saccades
Slowed horizontal saccades 		0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C3552821
Disease: EEG with photoparoxysmal response
EEG with photoparoxysmal response 		0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		0.700 0
dbSNP: rs1555968941
rs1555968941 		0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C1836835
Disease: Hyporeflexia of upper limbs
Hyporeflexia of upper limbs 		0.700 0