DisGeNET - a database of gene-disease associations

List of associated variants

Arrhythmogenic Right Ventricular Dysplasia, Familial, 10, C1857777

Source: CLINVAR ×

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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
rs397516706	DSG2-AS1 ; DSG2	0.925	0.080	18	31546441	frameshift variant	AGAG/-;AG	delins			4
rs121913006	DSG2	0.925	0.080	18	31519867	missense variant	G/A	snv	4.0E-06		2
rs121913008	DSG2	0.925	0.080	18	31519858	missense variant	G/A	snv		7.0E-06	2
rs121913013	DSG2	0.925	0.080	18	31519887	missense variant	G/A	snv	1.9E-03	1.8E-03	2
rs397514038	DSG2	0.925	0.080	18	31541191	splice acceptor variant	A/G	snv			2
rs397516709	DSG2	0.925	0.080	18	31521245	splice donor variant	T/C	snv	8.4E-06		2
rs553299589	DSG2	0.925	0.080	18	31521244	splice donor variant	G/A;C;T	snv	4.2E-06; 1.3E-05; 4.2E-06		2
rs121913010	DSG2 ; DSG2-AS1	0.925	0.080	18	31545820	missense variant	G/A;C;T	snv	2.4E-05; 1.2E-05		2
rs1039633976	DSG2	1.000	0.080	18	31538922	frameshift variant	-/G	delins		7.0E-06	1
rs121913007	DSG2	1.000	0.080	18	31524792	stop gained	G/A	snv			1
rs121913009	DSG2	1.000	0.080	18	31536298	missense variant	G/A;T	snv	4.0E-06; 4.0E-06		1
rs121913011	DSG2	1.000	0.080	18	31524554	missense variant	A/G	snv	4.0E-06		1
rs1555671331	DSG2	1.000	0.080	18	31522180	stop gained	TCCTCC/-	del			1
rs1555671441	DSG2	1.000	0.080	18	31524447	splice acceptor variant	G/A	snv			1
rs1568098570	DSG2	1.000	0.080	18	31498297	splice donor variant	G/A	snv			1
rs1568105371	DSG2	1.000	0.080	18	31521228	frameshift variant	TGAGT/-	delins			1
rs191564916	DSG2	0.925	0.080	18	31524877	missense variant	A/G	snv	5.2E-04	5.9E-04	1
rs730880347	DSG2	1.000	0.080	18	31536264	frameshift variant	-/G	delins			1
rs750176752	DSG2	1.000	0.080	18	31522250	splice donor variant	G/A	snv	1.2E-05		1
rs781532110	DSG2	1.000	0.080	18	31521213	frameshift variant	-/T	delins		2.1E-05	1
rs794728086	DSG2	1.000	0.080	18	31538849	stop gained	C/T	snv		7.0E-06	1
rs794728091	DSG2	1.000	0.080	18	31521184	frameshift variant	-/T	ins	4.0E-06		1
rs1375081885	DSG2-AS1 ; DSG2	1.000	0.080	18	31545914	frameshift variant	A/-	delins			1
rs1567933176	DSG2-AS1 ; DSG2	1.000	0.080	18	31542772	frameshift variant	G/-	delins			1
rs1567934720	DSG2-AS1 ; DSG2	1.000	0.080	18	31546144	frameshift variant	-/GCTA	delins			1