DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5 ×

Variants associated to the Gene: SCN8A ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1064794727	SCN8A	0.882	0.160	12	51807092	missense variant	T/C	snv			3
rs587780455	SCN8A	0.827	0.160	12	51807116	missense variant	A/G	snv			3
rs886044328	SCN8A	0.882	0.160	12	51806363	missense variant	G/A	snv			3
rs797045013	SCN8A	0.925	0.160	12	51751523	missense variant	C/T	snv			2
rs879255652	SCN8A	0.807	0.120	12	51790425	stop gained	G/A;T	snv			1