DisGeNET - a database of gene-disease associations

List of shared variants

SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, C3279792

Disease: CRANIOECTODERMAL DYSPLASIA 2

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
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
rs371669862	WDR35	0.925		2	19960553	splice donor variant	C/A;G;T	snv	8.0E-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