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
rs750188782	GJB2	0.882	0.200	13	20189391	frameshift variant	ACACGTTCTTGCAGCC/-	delins	1.2E-05		5
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
rs1057517508	GJB2	0.925	0.120	13	20189068	frameshift variant	A/-	del			2
rs1057517521	GJB2	0.925	0.120	13	20189006	frameshift variant	TG/-	delins			2
rs111033297	GJB2	1.000	0.120	13	20189413	stop gained	G/A	snv	2.8E-05	2.8E-05	2
rs111033335	GJB2	1.000	0.120	13	20188982	stop gained	TCCAGACAC/GAATGTCATGAACACTG	delins			2
rs111033401	GJB2	1.000	0.120	13	20189573	stop gained	C/T	snv			2
rs111033451	GJB2	0.925	0.120	13	20189563	stop gained	G/A	snv	8.0E-06		2
rs1291519904	GJB2	0.925	0.120	13	20189325	missense variant	G/A;C	snv	4.0E-06; 4.0E-06		2
rs1566528185	GJB2	1.000	0.120	13	20188976	stop gained	-/AAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTC	delins			2
rs199883710	GJB2	0.925	0.120	13	20189344	stop gained	G/A	snv	8.0E-06	6.3E-05	2
rs371086981	GJB2	0.925	0.120	13	20189580	start lost	A/C;G	snv	4.0E-06	2.8E-05	2