Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1939800
rs1939800
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs592656
rs592656
Entrez Id: 2893;106481266
Gene Symbol: GRIA4;RNU6-277P
GRIA4;RNU6-277P
CUI: C0596887
Disease:
mathematical ability 		G 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs7116046
rs7116046
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C0021704
Disease:
Intelligence 		T 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
dbSNP: rs1555050158
rs1555050158
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C4693391
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES 		0.700 GeneticVariation UNIPROT De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities. 29220673 2017
dbSNP: rs1555050165
rs1555050165
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C4693391
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES 		0.700 GeneticVariation UNIPROT De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities. 29220673 2017
dbSNP: rs1555050171
rs1555050171
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C4693391
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES 		0.700 GeneticVariation UNIPROT De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities. 29220673 2017
dbSNP: rs1555050174
rs1555050174
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C4693391
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES 		0.700 GeneticVariation UNIPROT De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities. 29220673 2017
dbSNP: rs17104715
rs17104715
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs17391295
rs17391295
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2564915
rs2564915
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs41516344
rs41516344
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs552767
rs552767
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs596100
rs596100
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs1555050165
rs1555050165
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591 2016
dbSNP: rs1555050165
rs1555050165
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders. 26482601 2016
dbSNP: rs71041628
rs71041628
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C0027092
Disease:
Myopia 		0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
dbSNP: rs1555050165
rs1555050165
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. 25864721 2015
dbSNP: rs1555050165
rs1555050165
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861 2014
dbSNP: rs1555050165
rs1555050165
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. 24721225 2014
dbSNP: rs11601239
rs11601239
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C0034951
Disease:
Refractive Errors 		C 0.700 GeneticVariation GWASDB Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. 23396134 2013
dbSNP: rs11601239
rs11601239
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C4025843
Disease:
Abnormality of refraction 		C 0.700 GeneticVariation GWASCAT Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. 23396134 2013
dbSNP: rs1555050165
rs1555050165
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
dbSNP: rs17104835
rs17104835
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C0200635
Disease:
Lymphocyte Count measurement 		0.700 GeneticVariation GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012
dbSNP: rs1555050165
rs1555050165
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR A new mode of corticothalamic transmission revealed in the Gria4(-/-) model of absence epilepsy. 21857658 2011
dbSNP: rs1555050165
rs1555050165
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 21376300 2011