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
rs3751385	GJB2	1.000	0.040	13	20188817	3 prime UTR variant	A/G	snv		0.74	1
rs117685390	GJB2	1.000	0.120	13	20193170	upstream gene variant	A/G	snv		0.16	1
rs2274084	GJB2	0.882	0.240	13	20189503	missense variant	C/T	snv	5.4E-02	2.2E-02	6
rs80338939	GJB2	0.732	0.280	13	20189547	frameshift variant	C/-;CC	delins		6.4E-03	14
rs2274083	GJB2	0.925	0.200	13	20189241	missense variant	T/C	snv	1.5E-02	5.1E-03	3
rs111033186	GJB2	1.000	0.120	13	20189125	missense variant	C/T	snv	9.3E-03	3.5E-03	1
rs76838169	GJB2			13	20188974	missense variant	A/G	snv	4.4E-03	1.3E-03	1
rs80338945	GJB2	0.695	0.440	13	20189313	missense variant	A/G	snv	6.4E-04	6.4E-04	32
rs80338942	GJB2	0.776	0.280	13	20189415	frameshift variant	A/-	del	8.9E-04	5.8E-04	10
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
rs80338943	GJB2	0.851	0.120	13	20189347	frameshift variant	G/-	delins	4.7E-04; 4.0E-06	2.1E-04	6
rs80338948	GJB2	0.763	0.280	13	20189155	missense variant	G/A	snv	1.2E-04	2.0E-04	12
rs111033294	GJB2	0.763	0.280	13	20188965	missense variant	T/C	snv	9.6E-05	1.8E-04	10
rs111033253	GJB2	0.925	0.120	13	20189256	frameshift variant	CTTGATGAACTTCC/-	delins		1.5E-04	4
rs104894396	GJB2	0.672	0.400	13	20189511	stop gained	C/T	snv	5.8E-04	1.1E-04	28
rs104894397	GJB2	0.882	0.120	13	20189353	missense variant	A/G	snv	4.0E-05	1.1E-04	3
rs80338947	GJB2	1.000	0.120	13	20189222	inframe deletion	CTC/-	delins	7.2E-05	9.1E-05	3
rs111033299	GJB2	0.763	0.280	13	20189299	missense variant	C/T	snv	4.8E-05	7.7E-05	10
rs199883710	GJB2	0.925	0.120	13	20189344	stop gained	G/A	snv	8.0E-06	6.3E-05	2
rs770116143	GJB2	0.925	0.120	13	20189017	frameshift variant	CT/-	delins		4.9E-05	2
rs111033293	GJB2	0.763	0.280	13	20189581	start lost	T/A;C	snv	3.6E-05	4.2E-05	10
rs767178508	GJB2	0.851	0.120	13	20189143	missense variant	C/T	snv	1.2E-05	4.2E-05	5
rs80338944	GJB2	0.763	0.280	13	20189351	stop gained	C/T	snv	1.4E-04	4.2E-05	9
rs568612627	GJB2	1.000	0.120	13	20189049	missense variant	A/G	snv	1.6E-05	3.5E-05	1