DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Keratoderma, Palmoplantar ×

Variants associated to the Gene: GJB2 ×

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
rs80338950	GJB2	0.752	0.280	13	20189031	missense variant	C/G;T	snv	6.0E-05		12
rs28931593	GJB2	0.776	0.200	13	20189358	missense variant	C/T	snv		7.0E-06	9
rs104894403	GJB2	0.851	0.240	13	20189386	missense variant	C/A;G;T	snv	4.0E-06		7
rs104894402	GJB2	0.882	0.200	13	20189359	missense variant	G/A;C	snv			5
rs121912968	GJB2	0.827	0.280	13	20189364	missense variant	T/C	snv			5
rs750188782	GJB2	0.882	0.200	13	20189391	frameshift variant	ACACGTTCTTGCAGCC/-	delins	1.2E-05		5
rs104894404	GJB2	0.882	0.200	13	20189406	missense variant	C/G;T	snv			4
rs879253741	GJB2	0.882	0.200	13	20189516	missense variant	C/A	snv			3
rs104894406	GJB2	0.925	0.200	13	20188977	missense variant	C/A	snv			2
rs28931595	GJB2	0.925	0.200	13	20189047	missense variant	C/A;G;T	snv	4.0E-06		2