DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Migraine, Familial Hemiplegic, 3 ×

Variants associated to the Gene: SCN1A-AS1 ×

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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			6
rs794726827	SCN1A ; SCN1A-AS1	0.827	0.120	2	166054637	splice donor variant	C/A;G;T	snv			6
rs398123585	SCN1A-AS1 ; SCN1A	0.851	0.080	2	166043875	stop gained	G/A;T	snv	4.0E-06		4
rs121917964	SCN1A ; SCN1A-AS1	0.851	0.080	2	166073371	missense variant	T/C	snv			4
rs794726718	SCN1A ; SCN1A-AS1	0.851	0.080	2	166037930	missense variant	C/G;T	snv			4
rs121917976	LOC102724058 ; SCN1A ; SCN1A-AS1	0.882	0.080	2	165992341	missense variant	C/G;T	snv			3
rs139300715	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.882	0.080	2	165996047	stop gained	G/A;C;T	snv	2.0E-05		3
rs121918624	SCN1A-AS1 ; SCN1A	0.827	0.080	2	166052882	stop gained	G/A	snv			3
rs886039456	SCN1A-AS1 ; SCN1A	0.882	0.080	2	166052885	missense variant	G/C	snv		1.4E-05	3
rs886039430	SCN1A ; SCN1A-AS1	0.882	0.080	2	166044010	stop gained	G/A	snv			3
rs121918632	LOC102724058 ; SCN1A-AS1 ; SCN1A	0.851	0.120	2	165996099	missense variant	A/G	snv		7.0E-06	1
rs121918628	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.851	0.080	2	165998049	missense variant	G/T	snv			1
rs121918633	SCN1A-AS1 ; LOC102724058 ; SCN1A	1.000	0.040	2	165998047	missense variant	C/G	snv			1
rs121918799	SCN1A-AS1 ; SCN1A ; LOC102724058	0.752	0.120	2	166015636	missense variant	G/C	snv	1.7E-03	1.6E-03	1