DisGeNET - a database of gene-disease associations

List of associated variants

Keratitis-Ichthyosis-Deafness Syndrome, C3665333

Source: ALL

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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
rs104894408	GJB2	0.742	0.280	13	20189548	missense variant	C/A;G	snv	5.1E-04		13
rs104894415	GJB6	0.742	0.240	13	20223450	missense variant	C/G;T	snv	4.0E-06		11
rs28931594	GJB2	0.790	0.280	13	20189434	missense variant	C/A;T	snv			9
rs1057517491	GJB2	0.776	0.240	13	20189448	frameshift variant	C/-	delins			8
rs28929485	GJB2	0.807	0.320	13	20189532	missense variant	G/A;C	snv			7
rs72561723	GJB2	0.790	0.240	13	20189448	missense variant	C/T	snv	8.0E-06		7
rs104894410	GJB2	0.807	0.320	13	20189407	missense variant	C/G;T	snv			6
rs1165937383	GJB2	0.925	0.240	13	20189540	frameshift variant	-/T	delins		2.1E-05	3
rs104894416	GJB6	0.882	0.160	13	20223371	missense variant	A/T	snv	4.0E-06		3
rs752478137	C1orf141 ; IL23R	0.925	0.240	1	67168187	missense variant	G/A	snv	4.0E-06	7.0E-06	2
rs200830749	MPG	0.925	0.240	16	79470	missense variant	G/C	snv	4.0E-06		2
rs773946331	TLR2	0.925	0.240	4	153702941	missense variant	G/A	snv	3.6E-05	3.5E-05	2