LAMA1, laminin subunit alpha 1, 284217

N. diseases: 107; N. variants: 21
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: rs8090011
rs8090011 		1.000 0.080 18 7068463 intron variant C/A;G snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.810 1.000 1 2012 2012
dbSNP: rs767889331
rs767889331 		18 7012105 stop gained G/A;C;T snv 2.0E-05; 4.0E-06; 4.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 14 1981 2016
dbSNP: rs767889331
rs767889331 		18 7012105 stop gained G/A;C;T snv 2.0E-05; 4.0E-06; 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 14 1981 2016
dbSNP: rs139840509
rs139840509 		1.000 18 6953581 intron variant G/A snv 1.1E-02
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		0.700 1.000 1 2019 2019
dbSNP: rs183708309
rs183708309 		1.000 0.080 18 6974460 intron variant T/C snv 1.0E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs587777677
rs587777677 		1.000 0.280 18 7050692 splice donor variant A/C snv
CUI: C4014821
Disease: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587777678
rs587777678 		1.000 0.280 18 6956768 splice region variant GTAGAAACAAGAG/- delins
CUI: C4014821
Disease: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587777680
rs587777680 		1.000 0.280 18 7016663 frameshift variant TA/- delins
CUI: C4014821
Disease: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587777681
rs587777681 		1.000 0.280 18 7050727 stop gained A/C snv
CUI: C4014821
Disease: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs600695
rs600695 		1.000 0.040 18 7034947 intron variant G/A snv 0.63
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs7240767
rs7240767 		1.000 0.080 18 7070643 intron variant T/C snv 0.50
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs797045182
rs797045182 		1.000 0.280 18 6973130 frameshift variant G/- delins
CUI: C4014821
Disease: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs797045184
rs797045184 		1.000 0.280 18 6977724 splice region variant C/G snv
CUI: C4014821
Disease: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs8084092
rs8084092 		18 6945449 intron variant C/T snv 0.86
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1555640521
rs1555640521 		0.790 0.320 18 6942110 frameshift variant A/- delins
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs1555640521
rs1555640521 		0.790 0.320 18 6942110 frameshift variant A/- delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555640521
rs1555640521 		0.790 0.320 18 6942110 frameshift variant A/- delins
CUI: C0018681
Disease: Headache
Headache 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1555640521
rs1555640521 		0.790 0.320 18 6942110 frameshift variant A/- delins
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs1555640521
rs1555640521 		0.790 0.320 18 6942110 frameshift variant A/- delins
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		0.700 0
dbSNP: rs1555640521
rs1555640521 		0.790 0.320 18 6942110 frameshift variant A/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555640521
rs1555640521 		0.790 0.320 18 6942110 frameshift variant A/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
dbSNP: rs1555640521
rs1555640521 		0.790 0.320 18 6942110 frameshift variant A/- delins
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555640521
rs1555640521 		0.790 0.320 18 6942110 frameshift variant A/- delins
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555640521
rs1555640521 		0.790 0.320 18 6942110 frameshift variant A/- delins
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.700 0
dbSNP: rs1555640521
rs1555640521 		0.790 0.320 18 6942110 frameshift variant A/- delins
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		0.700 0