DisGeNET - a database of gene-disease associations

List of associated variants

Sensorineural Hearing Loss (disorder), C0018784

Source: CURATED ×

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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
rs1555817157	ABHD12	0.742	0.280	20	25339320	frameshift variant	TCTTCCTCAGGCG/-	del			16
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
rs74315289	BSND	0.827	0.280	1	54999325	missense variant	G/A	snv	1.0E-04	1.5E-04	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
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
rs1558939623	CHN1	0.732	0.480	2	174824479	missense variant	C/T	snv			19
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
rs281874674	COL4A5	0.827	0.280	X	108597479	missense variant	G/C;T	snv			8
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
rs1566304640	EDNRB-AS1 ; EDNRB	0.827	0.280	13	77900593	missense variant	G/A	snv			8
rs781214034	EDNRB ; EDNRB-AS1	0.790	0.320	13	77903538	missense variant	C/T	snv	1.3E-04	2.8E-05	8
rs1471362858	EYA4	0.882	0.120	6	133462408	missense variant	G/C	snv	8.0E-06	7.0E-06	1
rs4647924	FGFR3	0.600	0.520	4	1801844	missense variant	C/A;G;T	snv	4.2E-06; 4.2E-06		30
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
rs104894396	GJB2	0.672	0.400	13	20189511	stop gained	C/T	snv	5.8E-04	1.1E-04	21
rs72474224	GJB2	0.708	0.440	13	20189473	missense variant	C/A;T	snv	7.7E-03		11
rs80338948	GJB2	0.763	0.280	13	20189155	missense variant	G/A	snv	1.2E-04	2.0E-04	10
rs111033299	GJB2	0.763	0.280	13	20189299	missense variant	C/T	snv	4.8E-05	7.7E-05	9