Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519526
rs1057519526
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
T 0.800 CausalMutation CLINVAR
dbSNP: rs1057519526
rs1057519526
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.800 GeneticVariation UNIPROT
dbSNP: rs387906684
rs387906684
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
A 0.800 GeneticVariation CLINVAR
dbSNP: rs387906685
rs387906685
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
G 0.800 CausalMutation CLINVAR
dbSNP: rs387906686
rs387906686
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
T 0.800 CausalMutation CLINVAR
dbSNP: rs387906686
rs387906686
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
A 0.800 GeneticVariation CLINVAR
dbSNP: rs794727152
rs794727152
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.800 GeneticVariation UNIPROT
dbSNP: rs794727152
rs794727152
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
A 0.800 GeneticVariation CLINVAR
dbSNP: rs796053124
rs796053124
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.800 GeneticVariation UNIPROT
dbSNP: rs796053124
rs796053124
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
T 0.800 GeneticVariation CLINVAR
dbSNP: rs796053126
rs796053126
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.800 GeneticVariation UNIPROT
dbSNP: rs1057519523
rs1057519523
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 GeneticVariation UNIPROT
dbSNP: rs1057519524
rs1057519524
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 GeneticVariation UNIPROT
dbSNP: rs1057519527
rs1057519527
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 GeneticVariation UNIPROT
dbSNP: rs1057519528
rs1057519528
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 GeneticVariation UNIPROT
dbSNP: rs1060503101
rs1060503101
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
T 0.700 CausalMutation CLINVAR
dbSNP: rs1060503102
rs1060503102
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
T 0.700 CausalMutation CLINVAR
dbSNP: rs121917751
rs121917751
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
A 0.700 GeneticVariation CLINVAR
dbSNP: rs147522594
rs147522594
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 GeneticVariation UNIPROT
dbSNP: rs1553461662
rs1553461662
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
AT 0.700 CausalMutation CLINVAR
dbSNP: rs1553462134
rs1553462134
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553462227
rs1553462227
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1553463516
rs1553463516
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553564139
rs1553564139
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553564144
rs1553564144
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
G 0.700 CausalMutation CLINVAR