DisGeNET - a database of gene-disease associations

List of associated variants

Nonsyndromic Deafness, C3711374

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
rs104894396	GJB2	0.672	0.400	13	20189511	stop gained	C/T	snv	5.8E-04	1.1E-04	28
rs72474224	GJB2	0.708	0.440	13	20189473	missense variant	C/A;T	snv	7.7E-03		18
rs111033293	GJB2	0.763	0.280	13	20189581	start lost	T/A;C	snv	3.6E-05	4.2E-05	10
rs28931593	GJB2	0.776	0.200	13	20189358	missense variant	C/T	snv		7.0E-06	9
rs35887622	GJB2	0.790	0.200	13	20189481	missense variant	A/C;G	snv	8.7E-03		8
rs111033260	PCDH15	0.790	0.200	10	54317414	stop gained	G/A;T	snv	2.2E-04; 4.0E-06		7
rs2274084	GJB2	0.882	0.240	13	20189503	missense variant	C/T	snv	5.4E-02	2.2E-02	6
rs121908354	CDH23	0.882	0.240	10	71570884	missense variant	C/T	snv	4.0E-05	7.0E-06	4
rs121912557	MYO6	0.882	0.120	6	75857198	missense variant	G/A	snv			4
rs759504704	NARS2	0.882	0.200	11	78436786	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		4
rs121908144	BSND	0.882	0.240	1	54999221	missense variant	T/C	snv	2.0E-05		3
rs2274083	GJB2	0.925	0.200	13	20189241	missense variant	T/C	snv	1.5E-02	5.1E-03	3
rs1244688796	KCNE1	0.925	0.200	21	34449584	stop gained	C/T	snv	4.0E-06		3
rs779124360	KCNE1	0.925	0.200	21	34449585	stop gained	C/T	snv	4.0E-06		3
rs199606180	MYO7A	0.882	0.200	11	77206120	missense variant	C/T	snv	1.2E-05	2.1E-05	3
rs565224393	NARS2	0.882	0.200	11	78469304	stop gained	A/C;G;T	snv	4.0E-06; 4.0E-06		3
rs202138002	P2RX2	0.882	0.120	12	132621535	missense variant	G/A;C	snv	1.8E-05		3
rs483352866	TBC1D24	0.882	0.240	16	2496681	missense variant	C/G;T	snv	8.0E-06		3
rs121908073	TMC1	0.925	0.120	9	72694578	stop gained	C/T	snv	5.6E-05		3
rs144446375	CEMIP	1.000	0.120	15	80881079	missense variant	G/A	snv	1.2E-05	4.2E-05	2
rs996035812	CEMIP	1.000	0.120	15	80925682	missense variant	C/T	snv	4.0E-06	7.0E-06	2
rs606231410	COL11A2	0.925	0.120	6	33189443	missense variant	C/A;T	snv	4.1E-06		2
rs794729665	DCDC2	0.925	0.120	6	24178385	missense variant	T/G	snv			2
rs431905513	DELEC1 ; TNC	0.925	0.120	9	115040947	missense variant	T/A	snv			2
rs387906893	DIABLO	0.925	0.120	12	122216808	missense variant	G/A	snv			2