DisGeNET - a database of gene-disease associations

List of associated variants

Neuropathy, Hereditary Sensory And Autonomic, Type IIA, C2752089

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
rs879253888	KIF1A	0.851	0.120	2	240783777	missense variant	G/A	snv			5
rs1057518900	SCN1A-AS1 ; SCN9A	0.925	0.120	2	166284785	stop gained	G/A	snv		7.0E-06	3
rs121908910	SCN1A-AS1 ; SCN9A	0.882	0.120	2	166272731	missense variant	G/A;C	snv	1.8E-05; 4.4E-06		3
rs200070962	SCN1A-AS1 ; SCN9A	0.882	0.120	2	166203996	stop gained	C/T	snv	4.1E-06		3
rs121908913	SCN9A ; SCN1A-AS1	0.882	0.120	2	166228969	missense variant	C/A	snv			3
rs187558439	SCN9A ; SCN1A-AS1	0.882	0.120	2	166204368	stop gained	G/A;T	snv	8.0E-06; 6.0E-05		3
rs766212849	SCN9A ; SCN1A-AS1	0.882	0.120	2	166278199	frameshift variant	CTTAA/-	delins			3
rs137852735	WNK1	0.882	0.160	12	868745	frameshift variant	-/A	delins			3
rs1060502047	SCN1A-AS1 ; SCN9A	0.925	0.120	2	166198763	missense variant	T/G	snv			2
rs1411870484	SCN1A-AS1 ; SCN9A	0.925	0.120	2	166284523	stop gained	G/A;C	snv		1.4E-05	2
rs1553473041	SCN1A-AS1 ; SCN9A	0.925	0.120	2	166199288	frameshift variant	T/-	del			2
rs1553491169	SCN1A-AS1 ; SCN9A	0.925	0.120	2	166288553	missense variant	C/T	snv			2
rs1559027674	SCN1A-AS1 ; SCN9A	0.925	0.120	2	166303231	frameshift variant	CA/-	delins			2
rs377543079	SCN1A-AS1 ; SCN9A	0.925	0.120	2	166304286	stop gained	G/A	snv	6.8E-05	2.1E-05	2
rs769971743	SCN1A-AS1 ; SCN9A	0.925	0.120	2	166278233	stop gained	C/T	snv	4.0E-06		2
rs773824421	SCN1A-AS1 ; SCN9A	0.925	0.120	2	166294664	splice acceptor variant	T/G	snv	4.6E-05		2
rs779327684	SCN1A-AS1 ; SCN9A	0.925	0.120	2	166280590	frameshift variant	-/A	delins	5.6E-06		2
rs1057518162	SCN9A ; SCN1A-AS1	0.925	0.120	2	166280559	stop gained	C/T	snv			2
rs1295192882	SCN9A ; SCN1A-AS1	0.925	0.120	2	166288436	splice donor variant	C/A	snv	4.0E-06		2
rs1553488759	SCN9A ; SCN1A-AS1	0.925	0.120	2	166280376	stop gained	-/TTTGAATTCCTCAGTCATT	delins			2
rs746241591	SCN9A ; SCN1A-AS1	0.925	0.120	2	166204359	splice donor variant	C/A;T	snv	8.0E-06		2
rs753900410	SCN9A ; SCN1A-AS1	0.925	0.120	2	166277280	frameshift variant	A/-	delins	4.0E-06	7.0E-06	2
rs755067851	SCN9A ; SCN1A-AS1	0.925	0.120	2	166311498	splice donor variant	C/T	snv	4.3E-06	7.0E-06	2
rs111033590	WNK1	0.925	0.080	12	868772	stop gained	C/T	snv	2.0E-05		2
rs111033591	WNK1	0.925	0.160	12	868697	stop gained	C/T	snv	1.6E-05	2.1E-05	2