DisGeNET - a database of gene-disease associations

List of associated variants

Keratoderma, Palmoplantar, C4551675

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
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
rs59616921	KRT9	0.807	0.120	17	41571506	missense variant	G/A	snv			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
rs587781245	SASH1	0.882	0.120	6	148533885	missense variant	G/A	snv	6.8E-05	7.0E-05	3
rs200564757	AAGAB	0.925	0.080	15	67236060	stop gained	G/A;T	snv	2.0E-05		2
rs746488412	AAGAB	0.925	0.080	15	67231868	stop gained	G/A	snv	8.0E-06		2
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
rs775911480	GJB6	1.000	0.080	13	20223257	missense variant	C/T	snv	2.4E-05		2
rs1057518846	AAGAB	1.000	0.080	15	67235978	splice donor variant	C/A;G	snv			1
rs1254374766	AAGAB	1.000	0.080	15	67208580	stop gained	G/A	snv	4.0E-06		1
rs761331634	DSP	1.000	0.080	6	7579740	missense variant	C/T	snv	2.0E-05	1.4E-05	1
rs1364245978	GJB6	1.000	0.080	13	20222876	missense variant	C/A	snv	4.0E-06		1