DisGeNET - a database of gene-disease associations

List of associated variants

Dandy-Walker Syndrome, C0010964

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
rs1558939623	CHN1	0.732	0.480	2	174824479	missense variant	C/T	snv			19
rs771409809	WFS1	0.732	0.480	4	6301794	stop gained	C/T	snv	6.0E-05	7.0E-06	19
rs869312685	ITPR1	0.807	0.240	3	4815135	missense variant	G/A;C	snv			11
rs28931594	GJB2	0.790	0.280	13	20189434	missense variant	C/A;T	snv			9
rs730882245	KIAA1109	0.827	0.160	4	122207168	stop gained	T/A	snv			6
rs1114167295	MAGED2	0.827	0.160	X	54812169	frameshift variant	C/-	del			6
rs1114167296	TMEM47	0.827	0.160	X	34656995	missense variant	C/G	snv			6
rs730882250	DPH1	0.882	0.080	17	2039760	missense variant	T/C;G	snv	4.0E-06; 4.0E-06		5
rs886039793	MARK4 ; EXOC3L2	0.882	0.120	19	45227667	frameshift variant	-/G	delins			4