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: 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: rs587782994
rs587782994
PURA
G 0.800 CausalMutation CLINVAR

dbSNP: rs587782995
rs587782995
PURA
C 0.800 GeneticVariation CLINVAR

dbSNP: rs587782995
rs587782995
PURA
C 0.800 CausalMutation CLINVAR

dbSNP: rs587783001
rs587783001
PURA
C 0.800 CausalMutation 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 De novo mutations in PURA are associated with hypotonia and developmental delay. 27148565

2015
dbSNP: rs786204835
rs786204835
PURA
G 0.700 CausalMutation CLINVAR De novo mutations in PURA are associated with hypotonia and developmental delay. 27148565

2015
dbSNP: rs1554129091
rs1554129091
PURA
T 0.700 CausalMutation CLINVAR Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098

2014
dbSNP: rs1561792945
rs1561792945
PURA
T 0.700 CausalMutation CLINVAR Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098

2014
dbSNP: rs1561793115
rs1561793115
PURA
T 0.700 CausalMutation CLINVAR Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098

2014
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: rs1561793268
rs1561793268
PURA
GCGGC 0.700 CausalMutation CLINVAR Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098

2014
dbSNP: rs1561793268
rs1561793268
PURA
GCGGC 0.700 CausalMutation 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: rs587782992
rs587782992
PURA
A 0.700 CausalMutation CLINVAR Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098

2014
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