DisGeNET - a database of gene-disease associations

List of shared variants

hearing impairment, C1384666

Disease: Nonsyndromic Deafness

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
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
rs1244688796	KCNE1	0.925	0.200	21	34449584	stop gained	C/T	snv	4.0E-06		3
rs2274083	GJB2	0.925	0.200	13	20189241	missense variant	T/C	snv	1.5E-02	5.1E-03	3
rs779124360	KCNE1	0.925	0.200	21	34449585	stop gained	C/T	snv	4.0E-06		3
rs144446375	CEMIP	1.000	0.120	15	80881079	missense variant	G/A	snv	1.2E-05	4.2E-05	2
rs776848994	GJB6	1.000	0.120	13	20223480	start lost	T/C	snv	1.6E-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