DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) ×

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
rs111033204	GJB2	0.925	0.120	13	20189282	frameshift variant	AT/-	del	6.4E-05	2.8E-05	3
rs111033297	GJB2	1.000	0.120	13	20189413	stop gained	G/A	snv	2.8E-05	2.8E-05	2
rs786204491	GJB2	1.000	0.120	13	20189291	stop gained	-/T	delins		2.1E-05	1
rs771748289	GJB2	1.000	0.120	13	20188986	missense variant	G/A	snv	1.2E-05; 1.2E-05	2.1E-05	1
rs1422767764	GJB2	1.000	0.120	13	20189283	missense variant	T/A	snv	1.6E-05	2.1E-05	1
rs587783647	GJB2	0.925	0.120	13	20188932	frameshift variant	TCTA/-	delins	4.8E-05	2.1E-05	3
rs730880338	GJB2	1.000	0.120	13	20189312	frameshift variant	-/A	delins	4.0E-06; 1.6E-05	1.4E-05	2
rs397516873	GJB2	0.925	0.120	13	20189514	frameshift variant	ATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC/-	del	2.0E-05	1.4E-05	2
rs756484720	GJB2	1.000	0.120	13	20189247	frameshift variant	TT/-	delins	8.0E-06	1.4E-05	2
rs28931593	GJB2	0.776	0.200	13	20189358	missense variant	C/T	snv		7.0E-06	9
rs781534323	GJB2	1.000	0.120	13	20189336	missense variant	G/C	snv	8.0E-06	7.0E-06	2
rs397516871	GJB2	1.000	0.120	13	20189303	missense variant	C/T	snv	1.6E-05	7.0E-06	1
rs727504302	GJB2	1.000	0.120	13	20189343	missense variant	T/G	snv	1.2E-05	7.0E-06	1
rs786204690	GJB2	1.000	0.120	13	20189174	stop gained	G/T	snv		7.0E-06	1
rs72474224	GJB2	0.708	0.440	13	20189473	missense variant	C/A;T	snv	7.7E-03		18
rs104894408	GJB2	0.742	0.280	13	20189548	missense variant	C/A;G	snv	5.1E-04		13
rs80338950	GJB2	0.752	0.280	13	20189031	missense variant	C/G;T	snv	6.0E-05		12
rs104894398	GJB2	0.776	0.280	13	20189443	stop gained	C/A;T	snv	1.3E-04; 4.0E-06		10
rs104894413	GJB2	0.776	0.280	13	20189451	stop gained	C/G;T	snv	2.4E-05		9
rs371024165	GJB2	0.763	0.400	13	20189488	missense variant	G/A;T	snv	3.2E-05; 8.0E-06		9
rs774518779	GJB2	0.776	0.280	13	20189076	missense variant	C/T	snv	8.0E-06		9
rs1057517491	GJB2	0.776	0.240	13	20189448	frameshift variant	C/-	delins			8
rs35887622	GJB2	0.790	0.200	13	20189481	missense variant	A/C;G	snv	8.7E-03		8
rs727503066	GJB2	0.776	0.280	13	20189203	missense variant	G/A;C	snv			8
rs72561723	GJB2	0.790	0.240	13	20189448	missense variant	C/T	snv	8.0E-06		7