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
rs4648011	NFKB1	1.000	0.120	4	102554287	intron variant	G/T	snv		0.61	1
rs761976067	WFS1	1.000	0.120	4	6301377	missense variant	T/C;G	snv	4.0E-06; 4.0E-06		1
rs876657776	DIAPH1	0.925	0.160	5	141524167	stop gained	G/A	snv			2
rs762356974	DIAPH1	1.000	0.120	5	141573742	missense variant	G/A;C;T	snv	1.6E-05; 2.2E-05; 2.7E-05		1
rs775146972	DIAPH1	1.000	0.120	5	141573787	missense variant	G/A;C	snv	6.8E-06		1
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs1318358361	ARID1B	0.724	0.240	6	156778678	missense variant	C/G	snv		2.1E-05	13
rs121912557	MYO6	0.882	0.120	6	75857198	missense variant	G/A	snv			4
rs1176235580	MTO1	0.925	0.120	6	73482214	missense variant	G/A	snv			3
rs139449947	MTO1	0.925	0.120	6	73482463	missense variant	G/A	snv	9.6E-05	9.8E-05	3
rs1471362858	EYA4	0.882	0.120	6	133462408	missense variant	G/C	snv	8.0E-06	7.0E-06	3
rs745434198	COL11A2	1.000	0.120	6	33165983	missense variant	C/A;T	snv	4.0E-06		1
rs539699299	SLC26A4 ; SLC26A4-AS1	0.851	0.160	7	107661725	missense variant	C/A;G	snv			4
rs111033256	SLC26A4	0.882	0.160	7	107675060	missense variant	T/A	snv	2.0E-04	3.5E-05	3
rs121908361	SLC26A4	0.882	0.160	7	107689156	stop gained	A/G;T	snv			3
rs10258719	ATP6V0A4	0.925	0.280	7	138771243	missense variant	A/C;G;T	snv	0.69		2
rs200455852	ASAH1	0.851	0.200	8	18064458	missense variant	T/C;G	snv	5.8E-05		6
rs775097398	EYA1	0.925	0.120	8	71216713	missense variant	T/C	snv	4.0E-06		2
rs796053353	STXBP1	0.882	0.120	9	127661192	missense variant	C/T	snv			6
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
rs1564494285	RET	0.882	0.200	10	43111219	frameshift variant	TG/-	delins			6
rs758723288	ECHS1	0.882	0.120	10	133370686	missense variant	G/A	snv	1.2E-05	1.4E-05	4
rs1250745641	CDH23	1.000	0.120	10	71807866	missense variant	G/A	snv			1
rs80358284	PRSS23 ; FZD4	0.790	0.240	11	86952443	missense variant	T/A;C	snv	4.0E-06; 2.4E-05		10