DisGeNET - a database of gene-disease associations

List of associated variants

CRANIOECTODERMAL DYSPLASIA 2, C3150874

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
rs183758503	SPAG17	0.851	0.160	1	118093260	missense variant	C/G;T	snv	2.0E-04; 1.2E-05		5
rs200140363	WDR35	0.851	0.160	2	19953852	missense variant	C/T	snv	3.2E-05	2.8E-05	5
rs199952377	WDR35	0.851	0.160	2	19941796	stop gained	A/C	snv	1.6E-04	1.9E-04	4
rs1327489348	WDR35	0.925		2	19962311	frameshift variant	-/C	delins	4.0E-06		2
rs1553317813	WDR35	0.925		2	19941837	splice acceptor variant	CCTTTAAAGACAAAAAAAAAGTTATGTTTCATT/-	delins			2
rs199840434	WDR35	0.925		2	19969494	stop gained	G/A	snv	1.6E-05	4.9E-05	2
rs267607174	WDR35	0.925	0.120	2	19945787	missense variant	T/C	snv			2
rs267607175	WDR35	0.925	0.120	2	19933469	missense variant	C/T	snv	4.0E-06	7.0E-06	2
rs371669862	WDR35	0.925		2	19960553	splice donor variant	C/A;G;T	snv	8.0E-06		2
rs397515334	WDR35	0.925	0.120	2	19931375	frameshift variant	G/-	delins	4.0E-06		2
rs397515533	WDR35	0.925	0.120	2	19946536	missense variant	A/G	snv		7.0E-06	2
rs746128772	WDR35	0.925		2	19914054	synonymous variant	C/T	snv	1.6E-05		2
rs767751856	WDR35	0.925		2	19953853	stop gained	G/A	snv	8.0E-06	1.4E-05	2
rs397515534	WDR35 ; LOC101928222	0.925	0.120	2	19989284	splice acceptor variant	T/C;G	snv	8.0E-06		2
rs1553313859	WDR35	1.000		2	19913645	missense variant	C/A	snv			1
rs541910371	WDR35	1.000		2	19914229	missense variant	T/C;G	snv	8.0E-06; 4.0E-06		1
rs765513105	WDR35	1.000		2	19982471	missense variant	C/T	snv			1