Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782994
rs587782994
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: rs587782994
rs587782994
PURA
0.800 GeneticVariation UNIPROT Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098

2014
dbSNP: rs587782995
rs587782995
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: rs587782995
rs587782995
PURA
0.800 GeneticVariation UNIPROT Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098

2014
dbSNP: rs587782995
rs587782995
PURA
C 0.800 GeneticVariation CLINVAR

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: rs1554129008
rs1554129008
PURA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554129096
rs1554129096
PURA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554129100
rs1554129100
PURA
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1561793219
rs1561793219
PURA
GGCGCAGGACGAGCC 0.700 GeneticVariation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605

2018
dbSNP: rs1561793219
rs1561793219
PURA
GGCGCAGGACGAGCC 0.700 GeneticVariation CLINVAR 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: rs1561793219
rs1561793219
PURA
GGCGCAGGACGAGCC 0.700 GeneticVariation CLINVAR De novo mutations in PURA are associated with hypotonia and developmental delay. 27148565

2015
dbSNP: rs1561793336
rs1561793336
PURA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs587782998
rs587782998
PURA
0.700 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: rs587782998
rs587782998
PURA
0.700 GeneticVariation UNIPROT Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098

2014
dbSNP: rs587782999
rs587782999
PURA
0.700 GeneticVariation UNIPROT Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098

2014
dbSNP: rs587782999
rs587782999
PURA
0.700 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: rs886039899
rs886039899
PURA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs587782994
rs587782994
PURA
G 0.800 CausalMutation CLINVAR

dbSNP: rs587782995
rs587782995
PURA
C 0.800 CausalMutation CLINVAR

dbSNP: rs587783001
rs587783001
PURA
C 0.800 CausalMutation CLINVAR

dbSNP: rs1554129045
rs1554129045
PURA
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554129069
rs1554129069
PURA
ACG 0.700 CausalMutation CLINVAR