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
rs104894334	LOC101927318 ; AQP2	0.851	0.200	12	49954233	missense variant	G/A	snv	5.3E-05	7.7E-05	1
rs104894396	GJB2	0.672	0.400	13	20189511	stop gained	C/T	snv	5.8E-04	1.1E-04	21
rs104894403	GJB2	0.851	0.240	13	20189386	missense variant	C/A;G;T	snv	4.0E-06		3
rs104894404	GJB2	0.882	0.200	13	20189406	missense variant	C/G;T	snv			1
rs104894409	GJB2	0.827	0.120	13	20189332	missense variant	C/A;G;T	snv	1.6E-05; 3.6E-05; 4.0E-06		4
rs1057516039	KMT2D	0.882	0.280	12	49029400	splice donor variant	C/T	snv			5
rs1057517491	GJB2	0.776	0.240	13	20189448	frameshift variant	C/-	delins			2
rs1057517694	CEP78	0.882	0.200	9	78248290	splice acceptor variant	G/A	snv			3
rs1057517695	CEP78	0.882	0.200	9	78241729	frameshift variant	T/-	delins			3
rs1057518895	RAB33A ; AIFM1	1.000	0.120	X	130137134	start lost	A/G	snv			4
rs111033256	SLC26A4	0.882	0.160	7	107675060	missense variant	T/A	snv	2.0E-04	3.5E-05	2
rs111033299	GJB2	0.763	0.280	13	20189299	missense variant	C/T	snv	4.8E-05	7.7E-05	9
rs111033437	MYO7A	0.882	0.120	11	77179925	missense variant	G/A;T	snv			6
rs1131692056	PRKCB	1.000	0.120	16	23988577	missense variant	G/T	snv		7.0E-06	1
rs1135401743	HAAO ; MTA3	0.776	0.320	2	42769785	stop gained	C/A;T	snv	4.0E-06		11
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	5
rs121908361	SLC26A4	0.882	0.160	7	107689156	stop gained	A/G;T	snv			2
rs121908930	COCH ; LOC100506071	0.925	0.120	14	30878897	missense variant	T/A;C	snv	4.0E-06		1
rs121909063	TECTA	0.925	0.120	11	121168135	missense variant	C/A;T	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
rs1291519904	GJB2	0.925	0.120	13	20189325	missense variant	G/A;C	snv	4.0E-06; 4.0E-06		1
rs1302739538	GJB2	0.882	0.120	13	20189066	stop gained	C/G;T	snv			3
rs1348505504	GIPC3	1.000	0.120	19	3586669	missense variant	G/A	snv		7.4E-06	1
rs144948296	STRC ; CKMT1B	0.925	0.120	15	43604750	stop gained	G/A;C	snv	1.8E-04		3