Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783001
rs587783001
PURA
0.800 GeneticVariation UNIPROT Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. 25342064

2014
dbSNP: rs587783001
rs587783001
PURA
C 0.800 GeneticVariation CLINVAR Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098

2014
dbSNP: rs587783001
rs587783001
PURA
0.800 GeneticVariation UNIPROT Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098

2014
dbSNP: rs587783001
rs587783001
PURA
C 0.800 CausalMutation CLINVAR