DisGeNET - a database of gene-disease associations

List of shared variants

Infantile Severe Myoclonic Epilepsy, C0751122

Disease: X-linked infantile spasms

Source: ALL

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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
rs121917984	SCN1A-AS1 ; SCN1A	0.790	0.080	2	166052869	missense variant	G/A;C	snv			8
rs398123588	SCN1A-AS1 ; SCN1A	0.827	0.080	2	166039436	missense variant	C/T	snv	8.0E-06		5
rs121917918	SCN1A ; SCN1A-AS1	0.851	0.040	2	166058651	missense variant	C/A;T	snv			4
rs121917935	SCN1A ; SCN1A-AS1	0.851	0.040	2	166054660	missense variant	C/A;T	snv			4
rs398123593	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.882	0.040	2	166002537	stop gained	G/A	snv			3