Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886040861
rs886040861
Entrez Id: 2906
Gene Symbol: GRIN2D
GRIN2D
CUI: C4310687
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
0.800 GeneticVariation UNIPROT GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. 27616483 2016
dbSNP: rs886040861
rs886040861
Entrez Id: 2906
Gene Symbol: GRIN2D
GRIN2D
CUI: C4310687
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
A 0.800 CausalMutation CLINVAR
dbSNP: rs1569064110
rs1569064110
Entrez Id: 2906
Gene Symbol: GRIN2D
GRIN2D
CUI: C4310687
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
A 0.700 CausalMutation CLINVAR
dbSNP: rs1569065861
rs1569065861
Entrez Id: 2906
Gene Symbol: GRIN2D
GRIN2D
CUI: C4310687
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
C 0.700 CausalMutation CLINVAR
dbSNP: rs1569065866
rs1569065866
Entrez Id: 2906
Gene Symbol: GRIN2D
GRIN2D
CUI: C4310687
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
C 0.700 CausalMutation CLINVAR