DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: GJB2 ×

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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
rs2274084	GJB2	0.882	0.240	13	20189503	missense variant	C/T	snv	5.4E-02	2.2E-02	6
rs2274083	GJB2	0.925	0.200	13	20189241	missense variant	T/C	snv	1.5E-02	5.1E-03	3
rs111033196	GJB2	1.000	0.120	13	20189202	missense variant	C/A;T	snv	2.8E-04; 1.4E-02		2
rs111033186	GJB2	1.000	0.120	13	20189125	missense variant	C/T	snv	9.3E-03	3.5E-03	1
rs35887622	GJB2	0.790	0.200	13	20189481	missense variant	A/C;G	snv	8.7E-03		8
rs72474224	GJB2	0.708	0.440	13	20189473	missense variant	C/A;T	snv	7.7E-03		18
rs76838169	GJB2			13	20188974	missense variant	A/G	snv	4.4E-03	1.3E-03	1
rs80338942	GJB2	0.776	0.280	13	20189415	frameshift variant	A/-	del	8.9E-04	5.8E-04	10
rs80338945	GJB2	0.695	0.440	13	20189313	missense variant	A/G	snv	6.4E-04	6.4E-04	32
rs104894396	GJB2	0.672	0.400	13	20189511	stop gained	C/T	snv	5.8E-04	1.1E-04	28
rs104894408	GJB2	0.742	0.280	13	20189548	missense variant	C/A;G	snv	5.1E-04		13
rs80338943	GJB2	0.851	0.120	13	20189347	frameshift variant	G/-	delins	4.7E-04; 4.0E-06	2.1E-04	6
rs76434661	GJB2	0.763	0.280	13	20189166	missense variant	C/T	snv	2.9E-04	4.6E-04	11
rs80338949	GJB2	1.000	0.120	13	20189095	missense variant	T/C;G	snv	1.4E-04		1
rs80338944	GJB2	0.763	0.280	13	20189351	stop gained	C/T	snv	1.4E-04	4.2E-05	9
rs104894398	GJB2	0.776	0.280	13	20189443	stop gained	C/A;T	snv	1.3E-04; 4.0E-06		10
rs80338948	GJB2	0.763	0.280	13	20189155	missense variant	G/A	snv	1.2E-04	2.0E-04	12
rs150529554	GJB2			13	20189227	stop gained	C/A;T	snv	4.0E-06; 1.0E-04		1
rs111033294	GJB2	0.763	0.280	13	20188965	missense variant	T/C	snv	9.6E-05	1.8E-04	10
rs1801002	GJB2	0.925	0.120	13	20189547	missense variant	C/A;T	snv	9.2E-05; 7.2E-05		3
rs397516874	GJB2	1.000	0.120	13	20189212	stop gained	G/A	snv	8.4E-05		2
rs80338947	GJB2	1.000	0.120	13	20189222	inframe deletion	CTC/-	delins	7.2E-05	9.1E-05	3
rs397516875	GJB2	0.925	0.120	13	20189197	stop gained	C/A;T	snv	6.4E-05		2
rs111033204	GJB2	0.925	0.120	13	20189282	frameshift variant	AT/-	del	6.4E-05	2.8E-05	3
rs111033295	GJB2	0.925	0.120	13	20189217	missense variant	T/A;G	snv	6.0E-05		4