DisGeNET - a database of gene-disease associations

List of associated variants

Ellis-Van Creveld Syndrome, C0013903

Source: CLINVAR ×

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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
rs121908425	EVC ; CRMP1	0.763	0.160	4	5748226	stop gained	C/A;T	snv	3.2E-05; 1.2E-05		14
rs753317536	EVC	0.790	0.160	4	5719239	intron variant	G/A;C	snv	8.0E-06; 4.0E-06		12
rs755381180	EVC	0.882	0.160	4	5745303	inframe deletion	AAG/-	delins	1.6E-05	2.8E-05	3
rs137852924	EVC2	0.882	0.160	4	5640789	stop gained	G/A	snv	4.8E-05	3.5E-05	3
rs769864196	EVC2	0.882	0.120	4	5631795	stop gained	G/A	snv	3.2E-05	4.9E-05	3
rs1446547358	CRMP1 ; EVC	0.925	0.160	4	5798724	stop gained	C/T	snv	4.1E-06	1.4E-05	2
rs1553873969	CRMP1 ; EVC	0.925	0.160	4	5748262	frameshift variant	-/AGCC	delins			2
rs753014919	CRMP1 ; EVC	0.925	0.160	4	5783682	frameshift variant	C/-	del		1.2E-04	2
rs794726665	CRMP1 ; EVC	0.925	0.120	4	5793722	splice region variant	G/A;T	snv	6.5E-06; 6.5E-06		2
rs1017946059	EVC	0.925	0.160	4	5731657	missense variant	G/A	snv	8.1E-06	7.0E-06	2
rs527255616	EVC	0.925	0.160	4	5745274	frameshift variant	-/T	delins	1.6E-05; 4.0E-06	7.0E-06	2
rs748523193	EVC	0.925	0.120	4	5729369	stop gained	C/A;T	snv	4.0E-06; 4.0E-06		2
rs1221185345	EVC2	0.925	0.160	4	5708363	frameshift variant	GATCCCGGGG/-	delins			2
rs137852927	EVC2	0.925	0.160	4	5576247	stop gained	G/A	snv	8.0E-05	7.7E-05	2
rs1553815019	EVC2	0.925	0.120	4	5574684	splice donor variant	C/T	snv			2
rs1553833239	EVC2	0.925	0.160	4	5622993	splice acceptor variant	T/C	snv			2
rs200300612	EVC2	0.925	0.160	4	5565256	splice donor variant	A/G	snv	3.2E-05	2.8E-05	2
rs748820015	EVC2	0.925	0.160	4	5694444	stop gained	G/C;T	snv	1.2E-05		2
rs751356206	EVC2	0.925	0.160	4	5622775	stop gained	G/A	snv	4.0E-06	7.0E-06	2
rs760382778	EVC2	0.925	0.160	4	5618564	stop gained	G/A	snv	1.2E-05	2.1E-05	2
rs774416029	EVC2	0.925	0.160	4	5694392	frameshift variant	-/A	delins	4.0E-06		2
rs781096099	EVC2	0.925	0.160	4	5694333	splice donor variant	A/C;G	snv	8.0E-06		2
rs1560340993	EVC ; CRMP1	0.925	0.160	4	5753048	frameshift variant	C/-	delins			2
rs1169539647	CRMP1 ; EVC	1.000	0.120	4	5809611	splice donor variant	G/-	delins			1
rs121908424	CRMP1 ; EVC	1.000	0.120	4	5808274	stop gained	C/T	snv	1.2E-05	2.1E-05	1