DisGeNET - a database of gene-disease associations

List of associated variants

Nonsyndromic Deafness, C3711374

Source: ALL

Results per page

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
rs759504704	NARS2	0.882	0.200	11	78436786	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		4
rs199606180	MYO7A	0.882	0.200	11	77206120	missense variant	C/T	snv	1.2E-05	2.1E-05	3
rs565224393	NARS2	0.882	0.200	11	78469304	stop gained	A/C;G;T	snv	4.0E-06; 4.0E-06		3
rs1283780488	NARS2	0.925	0.200	11	78469304	stop gained	-/T	delins			2
rs397508115	KCNQ1	0.925	0.200	11	2570683	frameshift variant	C/GG	delins			2
rs752672077	MPZL2	0.925	0.120	11	118263084	frameshift variant	T/-	del	8.1E-04	6.8E-04	2
rs756215789	MPZL2	1.000	0.120	11	118263084	missense variant	T/C	snv	4.0E-06		1
rs76737438	KCNQ1	1.000	0.120	11	2570686	missense variant	G/C	snv			1
rs202138002	P2RX2	0.882	0.120	12	132621535	missense variant	G/A;C	snv	1.8E-05		3
rs387906893	DIABLO	0.925	0.120	12	122216808	missense variant	G/A	snv			2
rs371465450	OTOGL	1.000	0.120	12	80255183	stop gained	C/T	snv	4.5E-05	7.0E-05	1
rs757774496	OTOGL	1.000	0.120	12	80279038	stop gained	C/A;T	snv	3.4E-05	4.2E-05	1
rs104894396	GJB2	0.672	0.400	13	20189511	stop gained	C/T	snv	5.8E-04	1.1E-04	28
rs72474224	GJB2	0.708	0.440	13	20189473	missense variant	C/A;T	snv	7.7E-03		18
rs111033293	GJB2	0.763	0.280	13	20189581	start lost	T/A;C	snv	3.6E-05	4.2E-05	10
rs28931593	GJB2	0.776	0.200	13	20189358	missense variant	C/T	snv		7.0E-06	9
rs35887622	GJB2	0.790	0.200	13	20189481	missense variant	A/C;G	snv	8.7E-03		8
rs2274084	GJB2	0.882	0.240	13	20189503	missense variant	C/T	snv	5.4E-02	2.2E-02	6
rs2274083	GJB2	0.925	0.200	13	20189241	missense variant	T/C	snv	1.5E-02	5.1E-03	3
rs1064797088	GJB2	0.925	0.120	13	20189446	missense variant	C/T	snv			2
rs776848994	GJB6	1.000	0.120	13	20223480	start lost	T/C	snv	1.6E-05	4.2E-05	2
rs780320724	GJB6	0.925	0.120	13	20223362	missense variant	G/A	snv	5.6E-05		2
rs117685390	GJB2	1.000	0.120	13	20193170	upstream gene variant	A/G	snv		0.16	1
rs1566538321	GJB6	1.000	0.120	13	20222994	frameshift variant	G/-	delins			1
rs772862268	GJB6	1.000	0.120	13	20223159	stop gained	G/A	snv	1.2E-05	2.8E-05	1