EMC1-AS1, EMC1 antisense RNA 1, 101927895

N. diseases: 15; N. variants: 4
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: rs1553252938
rs1553252938 		1 19232655 missense variant G/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 2 2013 2016
dbSNP: rs1553252938
rs1553252938 		1 19232655 missense variant G/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2013 2016
dbSNP: rs869320624
rs869320624 		0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2016 2017
dbSNP: rs869320624
rs869320624 		0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 1.000 2 2016 2017
dbSNP: rs869320624
rs869320624 		0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2016 2017
dbSNP: rs869320624
rs869320624 		0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05
CUI: C0241210
Disease: Speech Delay
Speech Delay 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2016 2017
dbSNP: rs869320624
rs869320624 		0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 2 2016 2017
dbSNP: rs869320624
rs869320624 		0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.700 1.000 2 2016 2017
dbSNP: rs869320624
rs869320624 		0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 1.000 2 2016 2017
dbSNP: rs869320624
rs869320624 		0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2016 2017
dbSNP: rs869320624
rs869320624 		0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05
CUI: C0585984
Disease: Laryngotracheomalacia
Laryngotracheomalacia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2016 2017
dbSNP: rs869320624
rs869320624 		0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05
CUI: C0426961
Disease: Dystonic posture
Dystonic posture 		0.700 1.000 2 2016 2017
dbSNP: rs869320624
rs869320624 		0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2016 2017
dbSNP: rs869320624
rs869320624 		0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05
CUI: C1968949
Disease: Cakut
Cakut 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2017 2017
dbSNP: rs879253819
rs879253819 		1.000 1 19235151 missense variant C/G snv
CUI: C4225172
Disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION 		0.700 1.000 1 2016 2016
dbSNP: rs869320624
rs869320624 		0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05
CUI: C4225172
Disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION 		0.700 0
dbSNP: rs869320626
rs869320626 		1.000 1 19220834 missense variant C/T snv
CUI: C4225172
Disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION 		0.700 0