DisGeNET - a database of gene-disease associations

List of associated variants

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, C1858673

Source: UNIPROT ×

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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
rs1131691773	SCN1A-AS1 ; LOC102724058 ; SCN1A	1.000	0.080	2	165991675	missense variant	A/G	snv			1
rs121917930	LOC102724058 ; SCN1A ; SCN1A-AS1	1.000	0.080	2	166013839	missense variant	A/G	snv			1
rs121917931	SCN1A ; SCN1A-AS1	1.000	0.080	2	166073402	missense variant	A/G	snv			1
rs121917932	SCN1A-AS1 ; LOC102724058 ; SCN1A	1.000	0.080	2	165992215	missense variant	A/G	snv			1
rs121918627	LOC102724058 ; SCN1A ; SCN1A-AS1	1.000	0.080	2	166002473	missense variant	A/G	snv			1
rs121918781	SCN1A-AS1 ; SCN1A	1.000	0.080	2	166047635	missense variant	A/G	snv			1
rs121918783	LOC102724058 ; SCN1A ; SCN1A-AS1	0.925	0.080	2	165991720	missense variant	A/G	snv			1
rs970867558	SCN1A ; SCN1A-AS1	1.000	0.080	2	166052894	missense variant	A/G	snv		7.0E-06	1
rs121918631	SCN1A-AS1 ; SCN1A	0.882	0.080	2	166056450	stop gained	A/G;T	snv			1
rs1057521079	SCN1A ; SCN1A-AS1 ; LOC102724058	0.925	0.080	2	165992362	missense variant	A/T	snv			1
rs121918630	SCN1A ; SCN1A-AS1 ; LOC102724058	0.925	0.080	2	165994167	missense variant	C/A	snv	4.0E-06		1
rs121918814	SCN1A-AS1 ; SCN1A ; LOC102724058	1.000	0.080	2	165991706	missense variant	C/A	snv			1
rs121918815	SCN1A ; LOC102724058 ; SCN1A-AS1	1.000	0.080	2	165991679	missense variant	C/A	snv			1
rs121917954	SCN1A-AS1 ; SCN1A ; LOC102724058	0.925	0.080	2	166002699	missense variant	C/A;G	snv			1
rs121918622	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.790	0.080	2	165992332	missense variant	C/A;T	snv	4.0E-06		2
rs121918805	LOC102724058 ; SCN1A-AS1 ; SCN1A	0.925	0.080	2	166002660	missense variant	C/A;T	snv	2.0E-05		2
rs121917906	SCN1A-AS1 ; SCN1A	1.000	0.080	2	166073542	missense variant	C/G	snv	8.8E-05	5.6E-05	1
rs121917971	SCN1A ; SCN1A-AS1	0.851	0.080	2	166037885	missense variant	C/G;T	snv			2
rs121917976	LOC102724058 ; SCN1A ; SCN1A-AS1	0.882	0.080	2	165992341	missense variant	C/G;T	snv			1
rs121918813	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000	0.080	2	165991892	missense variant	C/G;T	snv			1
rs121917957	SCN1A ; SCN1A-AS1	0.925	0.080	2	166047667	missense variant	C/T	snv	4.0E-06		1
rs398123588	SCN1A-AS1 ; SCN1A	0.827	0.080	2	166039436	missense variant	C/T	snv	8.0E-06		1
rs575368466	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000	0.080	2	165994211	missense variant	C/T	snv	4.0E-06		1
rs121918784	SCN1A ; SCN1A-AS1	0.925	0.080	2	166039437	missense variant	G/A	snv			2
rs121918629	SCN1A ; SCN1A-AS1 ; LOC102724058	0.925	0.080	2	165992149	missense variant	G/A	snv			1