DisGeNET - a database of gene-disease associations

List of associated variants

Nonsyndromic Deafness, C3711374

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
rs1185695012	WHRN	0.925	0.200	9	114403898	missense variant	G/A	snv	4.0E-06		2
rs1283780488	NARS2	0.925	0.200	11	78469304	stop gained	-/T	delins			2
rs200089613	HARS2	0.925	0.280	5	140698056	missense variant	G/A;T	snv	8.0E-05; 3.7E-04		2
rs387906893	DIABLO	0.925	0.120	12	122216808	missense variant	G/A	snv			2
rs397508115	KCNQ1	0.925	0.200	11	2570683	frameshift variant	C/GG	delins			2
rs397514599	PNPT1	0.925	0.120	2	55656148	missense variant	T/C	snv			2
rs397517255	WHRN	0.925	0.200	9	114424483	stop gained	G/A	snv			2
rs431905513	DELEC1 ; TNC	0.925	0.120	9	115040947	missense variant	T/A	snv			2
rs587777040	ELMOD3	0.925	0.120	2	85389806	missense variant	T/C	snv	4.0E-06		2
rs606231410	COL11A2	0.925	0.120	6	33189443	missense variant	C/A;T	snv	4.1E-06		2
rs752672077	MPZL2	0.925	0.120	11	118263084	frameshift variant	T/-	del	8.1E-04	6.8E-04	2
rs774056663	PCDH15	0.925	0.200	10	53823256	frameshift variant	-/ATAGTATT	delins		2.8E-05	2
rs780320724	GJB6	0.925	0.120	13	20223362	missense variant	G/A	snv	5.6E-05		2
rs794729665	DCDC2	0.925	0.120	6	24178385	missense variant	T/G	snv			2
rs80356593	OTOF	0.925	0.120	2	26477210	stop gained	G/A	snv	1.7E-04	3.5E-05	2
rs878854415	MYO15A ; LOC105371566	0.925	0.120	17	18144495	splice acceptor variant	A/G	snv			2
rs879255246	OTOF	0.925	0.120	2	26484568	missense variant	C/G;T	snv	4.0E-06		2
rs144446375	CEMIP	1.000	0.120	15	80881079	missense variant	G/A	snv	1.2E-05	4.2E-05	2
rs776848994	GJB6	1.000	0.120	13	20223480	start lost	T/C	snv	1.6E-05	4.2E-05	2
rs996035812	CEMIP	1.000	0.120	15	80925682	missense variant	C/T	snv	4.0E-06	7.0E-06	2
rs117685390	GJB2	1.000	0.120	13	20193170	upstream gene variant	A/G	snv		0.16	1
rs1321703512	SLCO6A1	1.000	0.120	5	102477684	missense variant	A/G	snv	1.2E-05		1
rs144964568	LOC105378642 ; SMIM12 ; GJB3	1.000	0.120	1	34785465	stop gained	C/T	snv	2.0E-05	1.4E-05	1
rs1465957812	KCNMA1	1.000	0.120	10	77084649	missense variant	G/A	snv			1
rs1566538321	GJB6	1.000	0.120	13	20222994	frameshift variant	G/-	delins			1