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
rs745434198	COL11A2	1.000	0.120	6	33165983	missense variant	C/A;T	snv	4.0E-06		1
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	22
rs1318358361	ARID1B	0.724	0.240	6	156778678	missense variant	C/G	snv		2.1E-05	13
rs1555661648	AQP4 ; AQP4-AS1	0.882	0.240	18	26862297	missense variant	C/G	snv			6
rs387906930	WFS1	0.790	0.360	4	6301846	missense variant	C/G;T	snv			8
rs104894404	GJB2	0.882	0.200	13	20189406	missense variant	C/G;T	snv			4
rs1302739538	GJB2	0.882	0.120	13	20189066	stop gained	C/G;T	snv			3
rs104894396	GJB2	0.672	0.400	13	20189511	stop gained	C/T	snv	5.8E-04	1.1E-04	28
rs1558939623	CHN1	0.732	0.480	2	174824479	missense variant	C/T	snv			19
rs771409809	WFS1	0.732	0.480	4	6301794	stop gained	C/T	snv	6.0E-05	7.0E-06	19
rs111033299	GJB2	0.763	0.280	13	20189299	missense variant	C/T	snv	4.8E-05	7.7E-05	10
rs781214034	EDNRB ; EDNRB-AS1	0.790	0.320	13	77903538	missense variant	C/T	snv	1.3E-04	2.8E-05	10
rs28931593	GJB2	0.776	0.200	13	20189358	missense variant	C/T	snv		7.0E-06	9
rs72561723	GJB2	0.790	0.240	13	20189448	missense variant	C/T	snv	8.0E-06		7
rs28938175	COCH ; LOC100506071	0.851	0.120	14	30877640	missense variant	C/T	snv	4.0E-06		6
rs796053353	STXBP1	0.882	0.120	9	127661192	missense variant	C/T	snv			6
rs80338828	MYH9	0.851	0.200	22	36305975	missense variant	C/T	snv			6
rs1057516039	KMT2D	0.882	0.280	12	49029400	splice donor variant	C/T	snv			5
rs151344629	NLRP3	0.851	0.200	1	247424492	missense variant	C/T	snv			4
rs80338827	MYH9	0.882	0.320	22	36305984	missense variant	C/T	snv		7.0E-06	4
rs1569169328	POLR2F ; SOX10	0.925	0.200	22	37978136	splice acceptor variant	C/T	snv			3
rs80338834	MYH9	0.925	0.160	22	36284474	missense variant	C/T	snv			3
rs1391331735	LOC105371566 ; MYO15A	0.925	0.120	17	18126795	missense variant	C/T	snv		7.0E-06	2
rs372466080	MYO15A	0.925	0.120	17	18166434	synonymous variant	C/T	snv	1.9E-04	1.0E-04	2
rs397514588	OTOGL	0.925	0.120	12	80229341	stop gained	C/T	snv	3.8E-05	2.8E-05	2