DisGeNET - a database of gene-disease associations

List of associated variants

Deafness, Autosomal Dominant 3B, C2675237

Source: ALL

Results per page

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
rs104894415	GJB6	0.742	0.240	13	20223450	missense variant	C/G;T	snv	4.0E-06		11
rs28937872	GJB6	0.851	0.200	13	20223218	missense variant	G/A	snv			5
rs780320724	GJB6	0.925	0.120	13	20223362	missense variant	G/A	snv	5.6E-05		2
rs104894414	GJB6	1.000	0.120	13	20223467	missense variant	G/A	snv	2.4E-05	1.4E-05	1