DisGeNET - a database of gene-disease associations

List of associated variants

ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, C3887494

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
rs121908450	RANBP2 ; EDAR	0.851	0.160	2	108929288	missense variant	C/T	snv	4.0E-06	1.4E-05	4
rs121908453	EDAR ; RANBP2	0.882	0.080	2	108896995	missense variant	C/T	snv			3
rs121908452	EDAR ; RANBP2	0.925	0.080	2	108897182	stop gained	G/A	snv			2
rs1553444895	EDAR ; RANBP2	0.925	0.080	2	108906307	splice donor variant	C/T	snv			2
rs1558793621	EDAR ; RANBP2	0.925	0.080	2	108897084	frameshift variant	-/C	delins			2
rs557166582	EDAR ; RANBP2	0.925	0.080	2	108929262	missense variant	G/A;T	snv	4.0E-06; 3.6E-05		2
rs121908116	EDARADD	0.925	0.080	1	236482366	missense variant	T/G	snv			2
rs74315309	EDARADD	0.925	0.080	1	236482455	missense variant	G/A	snv	4.0E-06		2
rs1310296844	RANBP2 ; EDAR	0.925	0.080	2	108897122	missense variant	C/T	snv		7.0E-06	2
rs1432041144	RANBP2 ; EDAR	0.925	0.080	2	108907892	stop gained	C/A	snv		7.0E-06	2
rs1558793736	RANBP2 ; EDAR	0.925	0.080	2	108897165	frameshift variant	C/-	del			2
rs757233170	RANBP2 ; EDAR	0.925	0.080	2	108929381	splice acceptor variant	T/C	snv	8.0E-06	7.0E-06	2
rs917638291	RANBP2 ; EDAR	0.925	0.080	2	108897091	missense variant	A/G	snv	4.0E-06		2
rs121908454	EDAR ; RANBP2	1.000	0.080	2	108897130	missense variant	C/T	snv	1.2E-05	7.0E-06	1
rs1553448320	EDAR ; RANBP2	1.000	0.080	2	108929276	missense variant	C/G	snv			1
rs1558814135	EDAR ; RANBP2	1.000	0.080	2	108929347	frameshift variant	G/AA	delins			1
rs199544410	EDAR ; RANBP2	1.000	0.080	2	108907920	stop gained	G/A;T	snv	4.0E-06; 1.2E-05	2.1E-05	1
rs773885029	EDAR ; RANBP2	1.000	0.080	2	108896954	missense variant	A/C;G	snv	4.0E-06		1
rs778903951	EDAR ; RANBP2	1.000	0.080	2	108930154	missense variant	C/T	snv			1
rs797044437	EDAR ; RANBP2	1.000	0.080	2	108910459	splice donor variant	C/T	snv			1
rs886039564	EDAR ; RANBP2	1.000	0.080	2	108897181	missense variant	C/T	snv			1