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
rs35887622	GJB2	0.790	0.200	13	20189481	missense variant	A/C;G	snv	8.7E-03		8
rs201650281	KARS1	0.827	0.200	16	75635982	missense variant	G/A	snv	1.4E-04	1.3E-04	8
rs387906930	WFS1	0.790	0.360	4	6301846	missense variant	C/G;T	snv			8
rs104894403	GJB2	0.851	0.240	13	20189386	missense variant	C/A;G;T	snv	4.0E-06		7
rs72561723	GJB2	0.790	0.240	13	20189448	missense variant	C/T	snv	8.0E-06		7
rs1555661648	AQP4 ; AQP4-AS1	0.882	0.240	18	26862297	missense variant	C/G	snv			6
rs200455852	ASAH1	0.851	0.200	8	18064458	missense variant	T/C;G	snv	5.8E-05		6
rs28938175	COCH ; LOC100506071	0.851	0.120	14	30877640	missense variant	C/T	snv	4.0E-06		6
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
rs80338826	MYH9	0.827	0.320	22	36305985	missense variant	G/A	snv			6
rs80338828	MYH9	0.851	0.200	22	36305975	missense variant	C/T	snv			6
rs111033437	MYO7A	0.882	0.120	11	77179925	missense variant	G/A;T	snv			6
rs185645212	POLG	0.851	0.240	15	89323504	missense variant	C/A;T	snv	8.0E-06; 9.7E-04		6
rs587781262	PRPS1	0.882	0.240	X	107640938	missense variant	A/G	snv			6
rs1564494285	RET	0.882	0.200	10	43111219	frameshift variant	TG/-	delins			6
rs796053353	STXBP1	0.882	0.120	9	127661192	missense variant	C/T	snv			6
rs74315289	BSND	0.827	0.280	1	54999325	missense variant	G/A	snv	1.0E-04	1.5E-04	5
rs750188782	GJB2	0.882	0.200	13	20189391	frameshift variant	ACACGTTCTTGCAGCC/-	delins	1.2E-05		5
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
rs80338829	MYH9	0.851	0.200	22	36295069	missense variant	G/A	snv			5
rs587781263	PRPS1	0.925	0.240	X	107650000	missense variant	G/T	snv			5
rs11096955	TLR10	0.851	0.200	4	38774486	missense variant	T/C;G	snv	4.3E-06; 0.41		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