Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553517274
rs1553517274
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C4693699
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		0.800 GeneticVariation UNIPROT Mutations in SCN3A cause early infantile epileptic encephalopathy. 29466837 2018
dbSNP: rs755440336
rs755440336
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C4693694
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 		0.800 GeneticVariation UNIPROT SCN3A deficiency associated with increased seizure susceptibility. 28235671 2017
dbSNP: rs755440336
rs755440336
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C4693694
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 		0.800 GeneticVariation UNIPROT Novel SCN3A variants associated with focal epilepsy in children. 24157691 2014
dbSNP: rs1057518801
rs1057518801
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C4693699
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1057518801
rs1057518801
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C4693699
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		0.800 GeneticVariation UNIPROT
dbSNP: rs1057520753
rs1057520753
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C4693699
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		0.800 GeneticVariation UNIPROT
dbSNP: rs1057520753
rs1057520753
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C4693699
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1553517274
rs1553517274
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C4693699
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		G 0.800 CausalMutation CLINVAR
dbSNP: rs755440336
rs755440336
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C4693694
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 		T 0.800 CausalMutation CLINVAR
dbSNP: rs758906955
rs758906955
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C4693694
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 		0.800 GeneticVariation UNIPROT
dbSNP: rs758906955
rs758906955
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C4693694
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1057518801
rs1057518801
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C0266464
Disease:
Polymicrogyria 		0.710 GeneticVariation BEFREE All patients presented with treatment-resistant epilepsy in the first year of life, severe to profound intellectual disability, and in 2 cases (both with the variant p.Ile875Thr), diffuse polymicrogyria. 29466837 2018
dbSNP: rs1057518801
rs1057518801
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C0266464
Disease:
Polymicrogyria 		G 0.710 GeneticVariation CLINVAR
dbSNP: rs62174901
rs62174901
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C0029408
Disease:
Degenerative polyarthritis 		0.700 GeneticVariation GWASDB A variant in MCF2L is associated with osteoarthritis. 21871595 2011
dbSNP: rs62174906
rs62174906
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C0029408
Disease:
Degenerative polyarthritis 		0.700 GeneticVariation GWASDB A variant in MCF2L is associated with osteoarthritis. 21871595 2011
dbSNP: rs1057518801
rs1057518801
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C0424605
Disease:
Developmental delay (disorder) 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1170839078
rs1170839078
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C4693699
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		0.700 GeneticVariation UNIPROT
dbSNP: rs1312429782
rs1312429782
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C4693699
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		0.700 GeneticVariation UNIPROT
dbSNP: rs377632429
rs377632429
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C4693694
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 		0.700 GeneticVariation UNIPROT
dbSNP: rs774195502
rs774195502
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C4693694
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 		0.700 GeneticVariation UNIPROT
dbSNP: rs1057518801
rs1057518801
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C0014544
Disease:
Epilepsy 		0.010 GeneticVariation BEFREE All patients presented with treatment-resistant epilepsy in the first year of life, severe to profound intellectual disability, and in 2 cases (both with the variant p.Ile875Thr), diffuse polymicrogyria. 29466837 2018
dbSNP: rs1057518801
rs1057518801
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C0543888
Disease:
Epileptic encephalopathy 		0.010 GeneticVariation BEFREE Here, we describe a cohort of 4 patients with epileptic encephalopathy and heterozygous de novo missense variants in SCN3A (p.Ile875Thr in 2 cases, p.Pro1333Leu, and p.Val1769Ala). 29466837 2018