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
rs1555342014	GJB2	1.000	0.120	13	20189571	frameshift variant	C/-	delins			1
rs80338939	GJB2	0.732	0.280	13	20189547	frameshift variant	C/-;CC	delins		6.4E-03	14
rs104894408	GJB2	0.742	0.280	13	20189548	missense variant	C/A;G	snv	5.1E-04		13
rs80338941	GJB2	1.000	0.120	13	20189526	missense variant	C/A;G	snv	2.8E-05; 1.2E-05		2
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
rs72474224	GJB2	0.708	0.440	13	20189473	missense variant	C/A;T	snv	7.7E-03		18
rs104894398	GJB2	0.776	0.280	13	20189443	stop gained	C/A;T	snv	1.3E-04; 4.0E-06		10
rs111033190	GJB2	0.925	0.120	13	20189487	missense variant	C/A;T	snv	3.2E-05; 4.0E-06		3
rs1801002	GJB2	0.925	0.120	13	20189547	missense variant	C/A;T	snv	9.2E-05; 7.2E-05		3
rs397516875	GJB2	0.925	0.120	13	20189197	stop gained	C/A;T	snv	6.4E-05		2
rs587783645	GJB2	1.000	0.120	13	20189424	missense variant	C/A;T	snv			2
rs786204597	GJB2	0.925	0.120	13	20188984	stop gained	C/A;T	snv	1.6E-05		2
rs786204734	GJB2	1.000	0.120	13	20192783	splice region variant	C/A;T	snv			2
rs80338950	GJB2	0.752	0.280	13	20189031	missense variant	C/G;T	snv	6.0E-05		12
rs104894413	GJB2	0.776	0.280	13	20189451	stop gained	C/G;T	snv	2.4E-05		9
rs104894407	GJB2	0.925	0.120	13	20189450	stop gained	C/G;T	snv	2.8E-05		3
rs1302739538	GJB2	0.882	0.120	13	20189066	stop gained	C/G;T	snv			3
rs779018464	GJB2	0.925	0.120	13	20189193	missense variant	C/G;T	snv	4.0E-06		2
rs769486081	GJB2	1.000	0.120	13	20189510	stop gained	C/G;T	snv			1
rs104894396	GJB2	0.672	0.400	13	20189511	stop gained	C/T	snv	5.8E-04	1.1E-04	28
rs76434661	GJB2	0.763	0.280	13	20189166	missense variant	C/T	snv	2.9E-04	4.6E-04	11
rs80338940	GJB2	0.763	0.280	13	20192782	splice donor variant	C/T	snv		2.3E-04	11
rs111033299	GJB2	0.763	0.280	13	20189299	missense variant	C/T	snv	4.8E-05	7.7E-05	10
rs28931593	GJB2	0.776	0.200	13	20189358	missense variant	C/T	snv		7.0E-06	9
rs774518779	GJB2	0.776	0.280	13	20189076	missense variant	C/T	snv	8.0E-06		9