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
rs111033361	GJB2			13	20189355	missense variant	A/G	snv	2.0E-05	7.0E-06	1
rs1476034902	GJB2			13	20189542	missense variant	T/C	snv		1.4E-05	1
rs150529554	GJB2			13	20189227	stop gained	C/A;T	snv	4.0E-06; 1.0E-04		1
rs375759781	GJB2			13	20189108	stop gained	G/A;C	snv	1.2E-05		1
rs750795475	GJB2			13	20189144	synonymous variant	G/A	snv	4.0E-06	7.0E-06	1
rs755058488	GJB2			13	20189186	synonymous variant	C/T	snv	4.0E-06	7.0E-06	1
rs76838169	GJB2			13	20188974	missense variant	A/G	snv	4.4E-03	1.3E-03	1
rs3751385	GJB2	1.000	0.040	13	20188817	3 prime UTR variant	A/G	snv		0.74	1
rs1273330603	GJB2	1.000	0.080	13	20189094	missense variant	A/G	snv		2.8E-05	3
rs104894409	GJB2	0.827	0.120	13	20189332	missense variant	C/A;G;T	snv	1.6E-05; 3.6E-05; 4.0E-06		6
rs80338943	GJB2	0.851	0.120	13	20189347	frameshift variant	G/-	delins	4.7E-04; 4.0E-06	2.1E-04	6
rs767178508	GJB2	0.851	0.120	13	20189143	missense variant	C/T	snv	1.2E-05	4.2E-05	5
rs104894401	GJB2	0.851	0.120	13	20189154	missense variant	C/T	snv			4
rs111033253	GJB2	0.925	0.120	13	20189256	frameshift variant	CTTGATGAACTTCC/-	delins		1.5E-04	4
rs111033295	GJB2	0.925	0.120	13	20189217	missense variant	T/A;G	snv	6.0E-05		4
rs104894397	GJB2	0.882	0.120	13	20189353	missense variant	A/G	snv	4.0E-05	1.1E-04	3
rs104894407	GJB2	0.925	0.120	13	20189450	stop gained	C/G;T	snv	2.8E-05		3
rs1057517519	GJB2	0.925	0.120	13	20189523	missense variant	A/G	snv			3
rs111033190	GJB2	0.925	0.120	13	20189487	missense variant	C/A;T	snv	3.2E-05; 4.0E-06		3
rs111033204	GJB2	0.925	0.120	13	20189282	frameshift variant	AT/-	del	6.4E-05	2.8E-05	3
rs1302739538	GJB2	0.882	0.120	13	20189066	stop gained	C/G;T	snv			3
rs143343083	GJB2	1.000	0.120	13	20189284	missense variant	G/A	snv	1.2E-05	2.8E-05	3
rs1801002	GJB2	0.925	0.120	13	20189547	missense variant	C/A;T	snv	9.2E-05; 7.2E-05		3
rs587783647	GJB2	0.925	0.120	13	20188932	frameshift variant	TCTA/-	delins	4.8E-05	2.1E-05	3
rs80338947	GJB2	1.000	0.120	13	20189222	inframe deletion	CTC/-	delins	7.2E-05	9.1E-05	3