Gene: GNB1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553194162
rs1553194162
GNB1
C 0.700 CausalMutation CLINVAR Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. 28087732

2017
dbSNP: rs752746786
rs752746786
GNB1
G 0.700 CausalMutation CLINVAR Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. 28087732

2017
dbSNP: rs758432471
rs758432471
GNB1
T 0.700 GeneticVariation CLINVAR Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. 28087732

2017
dbSNP: rs1553194162
rs1553194162
GNB1
C 0.700 CausalMutation CLINVAR Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability. 27668284

2016
dbSNP: rs1553194162
rs1553194162
GNB1
C 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs752746786
rs752746786
GNB1
G 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs752746786
rs752746786
GNB1
G 0.700 CausalMutation CLINVAR Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability. 27668284

2016
dbSNP: rs752746786
rs752746786
GNB1
T 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs758432471
rs758432471
GNB1
T 0.700 GeneticVariation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs758432471
rs758432471
GNB1
T 0.700 GeneticVariation CLINVAR Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability. 27668284

2016
dbSNP: rs758432471
rs758432471
GNB1
T 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs869312821
rs869312821
GNB1
C 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs869312823
rs869312823
GNB1
C 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs869312824
rs869312824
GNB1
G 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs869312825
rs869312825
GNB1
C 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs869312826
rs869312826
GNB1
T 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs1553194162
rs1553194162
GNB1
C 0.700 CausalMutation CLINVAR Mutations in G protein β subunits promote transformation and kinase inhibitor resistance. 25485910

2015
dbSNP: rs752746786
rs752746786
GNB1
G 0.700 CausalMutation CLINVAR Mutations in G protein β subunits promote transformation and kinase inhibitor resistance. 25485910

2015
dbSNP: rs758432471
rs758432471
GNB1
T 0.700 GeneticVariation CLINVAR Mutations in G protein β subunits promote transformation and kinase inhibitor resistance. 25485910

2015
dbSNP: rs1553194162
rs1553194162
GNB1
C 0.700 CausalMutation CLINVAR Genomic characterization of the human heterotrimeric G protein alpha, beta, and gamma subunit genes. 10819326

2000
dbSNP: rs752746786
rs752746786
GNB1
G 0.700 CausalMutation CLINVAR Genomic characterization of the human heterotrimeric G protein alpha, beta, and gamma subunit genes. 10819326

2000
dbSNP: rs758432471
rs758432471
GNB1
T 0.700 GeneticVariation CLINVAR Genomic characterization of the human heterotrimeric G protein alpha, beta, and gamma subunit genes. 10819326

2000
dbSNP: rs752746786
rs752746786
GNB1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs752746786
rs752746786
GNB1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs869312821
rs869312821
GNB1
C 0.700 GeneticVariation CLINVAR