Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553583712
rs1553583712
SCN2A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel. 17467289

2007
dbSNP: rs1553583712
rs1553583712
SCN2A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A. 15249644

2004
dbSNP: rs1553583712
rs1553583712
SCN2A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 15048894

2004
dbSNP: rs1553583712
rs1553583712
SCN2A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Evolutionary convergence of alternative splicing in ion channels. 15101391

2004
dbSNP: rs1553583712
rs1553583712
SCN2A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus. 11245985

2001
dbSNP: rs1553583712
rs1553583712
SCN2A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Evolution and diversity of mammalian sodium channel genes. 10198179

1999
dbSNP: rs1553583712
rs1553583712
SCN2A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain. 1325650

1992
dbSNP: rs1553583712
rs1553583712
SCN2A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Developmentally regulated alternative RNA splicing of rat brain sodium channel mRNAs. 1658739

1991
dbSNP: rs1553583712
rs1553583712
SCN2A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Brain and heart sodium channel subtype mRNA expression in rat cerebral cortex. 1658783

1991