Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909739
rs121909739
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
T 0.810 CausalMutation CLINVAR

dbSNP: rs864309514
rs864309514
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
T 0.800 CausalMutation CLINVAR

dbSNP: rs80359825
rs80359825
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1
A 0.800 CausalMutation CLINVAR

dbSNP: rs80359818
rs80359818
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1
A 0.800 CausalMutation CLINVAR Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 19798636

2009

dbSNP: rs80359818
rs80359818
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
A 0.800 CausalMutation CLINVAR

dbSNP: rs80359818
rs80359818
CHOREOATHETOSIS/SPASTICITY, EPISODIC
A 0.800 CausalMutation CLINVAR

dbSNP: rs80359818
rs80359818
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1
A 0.800 CausalMutation CLINVAR Imaging the metabolic footprint of Glut1 deficiency on the brain. 12325075

2002

dbSNP: rs80359818
rs80359818
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1
A 0.800 CausalMutation CLINVAR Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitro. 17052934

2007

dbSNP: rs398123069
rs398123069
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
C 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs397514564
rs397514564
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
G 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs387907313
rs387907313
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
A 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs387907312
rs387907312
CHOREOATHETOSIS/SPASTICITY, EPISODIC
A 0.800 CausalMutation CLINVAR

dbSNP: rs267607061
rs267607061
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
A 0.800 CausalMutation CLINVAR

dbSNP: rs267607060
rs267607060
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
AT 0.800 CausalMutation CLINVAR

dbSNP: rs202060209
rs202060209
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
A 0.800 CausalMutation CLINVAR

dbSNP: rs1553155986
rs1553155986
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1
T 0.800 GeneticVariation CLINVAR

dbSNP: rs13306758
rs13306758
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
A 0.800 GeneticVariation CLINVAR

dbSNP: rs13306758
rs13306758
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
A 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs121909740
rs121909740
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
T 0.800 CausalMutation CLINVAR

dbSNP: rs80359825
rs80359825
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome
A 0.710 GeneticVariation CLINVAR

dbSNP: rs878853161
rs878853161
CUI: C0241210
Disease: Speech Delay
Speech Delay
G 0.700 CausalMutation CLINVAR

dbSNP: rs878853161
rs878853161
CUI: C0013421
Disease: Dystonia
Dystonia
G 0.700 CausalMutation CLINVAR

dbSNP: rs878853161
rs878853161
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
G 0.700 CausalMutation CLINVAR

dbSNP: rs878853161
rs878853161
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
G 0.700 CausalMutation CLINVAR

dbSNP: rs878853161
rs878853161
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face
G 0.700 CausalMutation CLINVAR