DisGeNET - a database of gene-disease associations

List of associated variants

Sensorineural Hearing Loss (disorder), C0018784

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
rs74315289	BSND	0.827	0.280	1	54999325	missense variant	G/A	snv	1.0E-04	1.5E-04	1
rs121908930	COCH ; LOC100506071	0.925	0.120	14	30878897	missense variant	T/A;C	snv	4.0E-06		1
rs28938175	COCH ; LOC100506071	0.851	0.120	14	30877640	missense variant	C/T	snv	4.0E-06		1
rs745434198	COL11A2	1.000	0.120	6	33165983	missense variant	C/A;T	snv	4.0E-06		1
rs1348505504	GIPC3	1.000	0.120	19	3586669	missense variant	G/A	snv		7.4E-06	1
rs786204123	GJB1	0.882	0.160	X	71224132	missense variant	G/A	snv			1
rs104894404	GJB2	0.882	0.200	13	20189406	missense variant	C/G;T	snv			1
rs1291519904	GJB2	0.925	0.120	13	20189325	missense variant	G/A;C	snv	4.0E-06; 4.0E-06		1
rs763320093	LMX1A-AS2 ; LMX1A	1.000	0.120	1	165203923	missense variant	A/G	snv	1.6E-05	1.4E-05	1
rs104894334	LOC101927318 ; AQP2	0.851	0.200	12	49954233	missense variant	G/A	snv	5.3E-05	7.7E-05	1
rs794726869	MARS2	0.925	0.120	2	197705955	stop gained	C/T	snv		7.0E-06	1
rs80338830	MYH9	0.925	0.160	22	36295068	missense variant	C/A	snv			1
rs121912557	MYO6	0.882	0.120	6	75857198	missense variant	G/A	snv			1
rs1233562246	OTOGL	0.925	0.120	12	80255055	frameshift variant	T/-	del			1
rs397514588	OTOGL	0.925	0.120	12	80229341	stop gained	C/T	snv	3.8E-05	2.8E-05	1
rs1131692056	PRKCB	1.000	0.120	16	23988577	missense variant	G/T	snv		7.0E-06	1
rs539699299	SLC26A4 ; SLC26A4-AS1	0.851	0.160	7	107661725	missense variant	C/A;G	snv			1
rs121909063	TECTA	0.925	0.120	11	121168135	missense variant	C/A;T	snv			1
rs28937893	WFS1	0.925	0.120	4	6301941	missense variant	G/A;C	snv	8.0E-06; 4.0E-06		1
rs387906931	WFS1	0.925	0.360	4	6302133	missense variant	G/A	snv			1
rs549556142	CDC14A	0.925	0.120	1	100484347	stop gained	C/A;T	snv	1.6E-04; 4.1E-06		2
rs876661408	CDC14A	0.925	0.120	1	100484440	stop gained	C/T	snv	4.3E-06		2
rs1057517491	GJB2	0.776	0.240	13	20189448	frameshift variant	C/-	delins			2
rs397516875	GJB2	0.925	0.120	13	20189197	stop gained	C/A;T	snv	6.4E-05		2
rs72561723	GJB2	0.790	0.240	13	20189448	missense variant	C/T	snv	8.0E-06		2