DisGeNET - a database of gene-disease associations

List of associated variants

Sensorineural Hearing Loss (disorder), C0018784

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
rs1318358361	ARID1B	0.724	0.240	6	156778678	missense variant	C/G	snv		2.1E-05	13
rs763320093	LMX1A-AS2 ; LMX1A	1.000	0.120	1	165203923	missense variant	A/G	snv	1.6E-05	1.4E-05	1
rs765379963	TMCO1	0.701	0.520	1	165743172	stop gained	G/A	snv	1.2E-05	2.1E-05	19
rs1558939623	CHN1	0.732	0.480	2	174824479	missense variant	C/T	snv			19
rs4647924	FGFR3	0.600	0.520	4	1801844	missense variant	C/A;G;T	snv	4.2E-06; 4.2E-06		49
rs200455852	ASAH1	0.851	0.200	8	18064458	missense variant	T/C;G	snv	5.8E-05		6
rs1391331735	LOC105371566 ; MYO15A	0.925	0.120	17	18126795	missense variant	C/T	snv		7.0E-06	2
rs372466080	MYO15A	0.925	0.120	17	18166434	synonymous variant	C/T	snv	1.9E-04	1.0E-04	2
rs80356529	OPA1	0.827	0.240	3	193643996	missense variant	G/A;C	snv			9
rs794726869	MARS2	0.925	0.120	2	197705955	stop gained	C/T	snv		7.0E-06	2
rs752298579	TANGO2	0.701	0.480	22	20061538	missense variant	G/A	snv	1.4E-04	7.0E-06	48
rs1302739538	GJB2	0.882	0.120	13	20189066	stop gained	C/G;T	snv			3
rs80338948	GJB2	0.763	0.280	13	20189155	missense variant	G/A	snv	1.2E-04	2.0E-04	12
rs397516875	GJB2	0.925	0.120	13	20189197	stop gained	C/A;T	snv	6.4E-05		2
rs111033196	GJB2	1.000	0.120	13	20189202	missense variant	C/A;T	snv	2.8E-04; 1.4E-02		2
rs111033299	GJB2	0.763	0.280	13	20189299	missense variant	C/T	snv	4.8E-05	7.7E-05	10
rs1291519904	GJB2	0.925	0.120	13	20189325	missense variant	G/A;C	snv	4.0E-06; 4.0E-06		2
rs104894409	GJB2	0.827	0.120	13	20189332	missense variant	C/A;G;T	snv	1.6E-05; 3.6E-05; 4.0E-06		6
rs28931593	GJB2	0.776	0.200	13	20189358	missense variant	C/T	snv		7.0E-06	9
rs104894403	GJB2	0.851	0.240	13	20189386	missense variant	C/A;G;T	snv	4.0E-06		7
rs750188782	GJB2	0.882	0.200	13	20189391	frameshift variant	ACACGTTCTTGCAGCC/-	delins	1.2E-05		5
rs104894404	GJB2	0.882	0.200	13	20189406	missense variant	C/G;T	snv			4
rs1057517491	GJB2	0.776	0.240	13	20189448	frameshift variant	C/-	delins			8
rs72561723	GJB2	0.790	0.240	13	20189448	missense variant	C/T	snv	8.0E-06		7
rs72474224	GJB2	0.708	0.440	13	20189473	missense variant	C/A;T	snv	7.7E-03		18