DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (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
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
rs72474224	GJB2	0.708	0.440	13	20189473	missense variant	C/A;T	snv	7.7E-03		18
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
rs80338948	GJB2	0.763	0.280	13	20189155	missense variant	G/A	snv	1.2E-04	2.0E-04	12
rs80338950	GJB2	0.752	0.280	13	20189031	missense variant	C/G;T	snv	6.0E-05		12
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
rs104894398	GJB2	0.776	0.280	13	20189443	stop gained	C/A;T	snv	1.3E-04; 4.0E-06		10
rs111033293	GJB2	0.763	0.280	13	20189581	start lost	T/A;C	snv	3.6E-05	4.2E-05	10
rs111033294	GJB2	0.763	0.280	13	20188965	missense variant	T/C	snv	9.6E-05	1.8E-04	10
rs111033299	GJB2	0.763	0.280	13	20189299	missense variant	C/T	snv	4.8E-05	7.7E-05	10
rs80338942	GJB2	0.776	0.280	13	20189415	frameshift variant	A/-	del	8.9E-04	5.8E-04	10
rs104894413	GJB2	0.776	0.280	13	20189451	stop gained	C/G;T	snv	2.4E-05		9
rs28931593	GJB2	0.776	0.200	13	20189358	missense variant	C/T	snv		7.0E-06	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
rs80338944	GJB2	0.763	0.280	13	20189351	stop gained	C/T	snv	1.4E-04	4.2E-05	9
rs1057517491	GJB2	0.776	0.240	13	20189448	frameshift variant	C/-	delins			8
rs727503066	GJB2	0.776	0.280	13	20189203	missense variant	G/A;C	snv			8
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
rs104894402	GJB2	0.882	0.200	13	20189359	missense variant	G/A;C	snv			5
rs767178508	GJB2	0.851	0.120	13	20189143	missense variant	C/T	snv	1.2E-05	4.2E-05	5