Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555640521
rs1555640521
LAMA1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555640521
rs1555640521
LAMA1
CUI: C0017152
Disease: Gastritis
Gastritis 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555640521
rs1555640521
LAMA1
CUI: C0003467
Disease: Anxiety
Anxiety 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555640521
rs1555640521
LAMA1
CUI: C4014821
Disease: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555640521
rs1555640521
LAMA1
CUI: C0018681
Disease: Headache
Headache 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555640521
rs1555640521
LAMA1
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555640521
rs1555640521
LAMA1
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555640521
rs1555640521
LAMA1
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555640521
rs1555640521
LAMA1
CUI: C0027497
Disease: Nausea
Nausea 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555640521
rs1555640521
LAMA1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555640521
rs1555640521
LAMA1
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555640521
rs1555640521
LAMA1
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555640521
rs1555640521
LAMA1
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555640521
rs1555640521
LAMA1
CUI: C4317146
Disease: Acid reflux
Acid reflux 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555640521
rs1555640521
LAMA1
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555643185
rs1555643185
LAMA1 ; LOC101927188
CUI: C4014821
Disease: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		AGCTTGCT 0.700 GeneticVariation CLINVAR

dbSNP: rs1555654766
rs1555654766
LAMA1
CUI: C4014821
Disease: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555656402
rs1555656402
LAMA1
CUI: C4014821
Disease: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1568019012
rs1568019012
LAMA1
CUI: C0563243
Disease: Poor coordination
Poor coordination 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1568019012
rs1568019012
LAMA1
CUI: C0027092
Disease: Myopia
Myopia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1568019012
rs1568019012
LAMA1
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1568019012
rs1568019012
LAMA1
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1568019012
rs1568019012
LAMA1
CUI: C4014821
Disease: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1568019012
rs1568019012
LAMA1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1568019012
rs1568019012
LAMA1
CUI: C3532947
Disease: Severe receptive language delay
Severe receptive language delay 		A 0.700 CausalMutation CLINVAR