DisGeNET - a database of gene-disease associations

List of associated variants

Auditory neuropathy spectrum disorder, C2732267

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
rs121913603	MPZ	0.732	0.160	1	161306722	missense variant	T/C;G	snv	2.0E-05		12
rs35887622	GJB2	0.790	0.200	13	20189481	missense variant	A/C;G	snv	8.7E-03		8
rs201326023	OTOF	0.882	0.120	2	26458218	missense variant	C/T	snv	4.3E-05	1.4E-05	4
rs111706634	PJVK	0.882	0.120	2	178456149	missense variant	C/A;T	snv	4.0E-06; 4.0E-06; 4.0E-06		4
rs199766465	OTOF	0.882	0.120	2	26463969	missense variant	C/G;T	snv	5.1E-04		3
rs80356605	OTOF	0.882	0.120	2	26460203	missense variant	C/G;T	snv	4.4E-06; 6.1E-05		3
rs118203988	PJVK	0.882	0.120	2	178453570	missense variant	C/T	snv			3
rs184474885	AIFM1 ; RAB33A	0.925	0.160	X	130137123	missense variant	G/A	snv	1.9E-04	3.8E-05	2
rs397515582	OTOF	0.925	0.120	2	26483581	stop gained	G/A	snv	8.0E-06	7.0E-06	2
rs766819324	OTOF	0.925	0.120	2	26474609	stop gained	G/C	snv	4.0E-06		2
rs773429181	OTOF	0.925	0.120	2	26477730	missense variant	A/G	snv	4.0E-06		2
rs863225431	RAB33A ; AIFM1	0.925	0.160	X	130133409	missense variant	C/T	snv			2
rs35725509	TMTC2	0.925	0.120	12	82896304	missense variant	G/A	snv	1.0E-02	6.2E-03	2
rs1459288526	OTOF	1.000	0.120	2	26464073	missense variant	A/G	snv			1
rs773985815	OTOF	1.000	0.120	2	26480887	missense variant	G/A	snv	8.0E-06	1.4E-05	1
rs1373232834	PCDH15	1.000	0.120	10	53822982	missense variant	T/A	snv			1
rs757377176	PCDH15	1.000	0.120	10	53822631	missense variant	C/G	snv	4.0E-06		1