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
rs1567498374	KARS1	0.882	0.160	16	75630493	frameshift variant	G/-;GG	delins			5
rs1057516039	KMT2D	0.882	0.280	12	49029400	splice donor variant	C/T	snv			5
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	5
rs1569492161	COL4A5	0.882	0.280	X	108586729	missense variant	G/C	snv			4
rs758723288	ECHS1	0.882	0.120	10	133370686	missense variant	G/A	snv	1.2E-05	1.4E-05	4
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
rs28931593	GJB2	0.776	0.200	13	20189358	missense variant	C/T	snv		7.0E-06	4
rs80356529	OPA1	0.827	0.240	3	193643996	missense variant	G/A;C	snv			4
rs1559320299	PAX3 ; CCDC140	0.925	0.160	2	222297043	missense variant	T/A	snv			4
rs1569167515	POLR2F ; SOX10	0.925	0.200	22	37973567	inframe deletion	CTGGGGTCAGAGATG/-	delins			4
rs1057518895	RAB33A ; AIFM1	1.000	0.120	X	130137134	start lost	A/G	snv			4
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
rs104894403	GJB2	0.851	0.240	13	20189386	missense variant	C/A;G;T	snv	4.0E-06		3
rs1302739538	GJB2	0.882	0.120	13	20189066	stop gained	C/G;T	snv			3
rs35887622	GJB2	0.790	0.200	13	20189481	missense variant	A/C;G	snv	8.7E-03		3
rs1569169328	POLR2F ; SOX10	0.925	0.200	22	37978136	splice acceptor variant	C/T	snv			3
rs587781262	PRPS1	0.882	0.240	X	107640938	missense variant	A/G	snv			3
rs144948296	STRC ; CKMT1B	0.925	0.120	15	43604750	stop gained	G/A;C	snv	1.8E-04		3
rs772606235	TECTA	0.882	0.120	11	121137586	missense variant	G/A;T	snv	5.2E-05		3
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