DisGeNET - a database of gene-disease associations

List of associated variants

ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT, C3888065

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
rs104894415	GJB6	0.742	0.240	13	20223450	missense variant	C/G;T	snv	4.0E-06		11
rs3827760	RANBP2 ; EDAR	0.752	0.160	2	108897145	missense variant	A/G	snv	0.15	5.9E-02	11
rs132630312	EDA	0.807	0.120	X	69957093	missense variant	C/T	snv		1.9E-05	6
rs132630317	EDA	0.827	0.080	X	70035478	missense variant	G/A;T	snv			5
rs121908453	EDAR ; RANBP2	0.882	0.080	2	108896995	missense variant	C/T	snv			3
rs1553444895	EDAR ; RANBP2	0.925	0.080	2	108906307	splice donor variant	C/T	snv			2
rs557166582	EDAR ; RANBP2	0.925	0.080	2	108929262	missense variant	G/A;T	snv	4.0E-06; 3.6E-05		2
rs1310296844	RANBP2 ; EDAR	0.925	0.080	2	108897122	missense variant	C/T	snv		7.0E-06	2
rs917638291	RANBP2 ; EDAR	0.925	0.080	2	108897091	missense variant	A/G	snv	4.0E-06		2
rs1060499610	RANBP2 ; EDAR	1.000		2	108929270	frameshift variant	C/-	delins			1
rs886041005	RANBP2 ; EDAR	1.000		2	108896970	stop gained	A/C;T	snv			1