DisGeNET - a database of gene-disease associations

List of associated variants

Diaphragmatic Eventration, C0011981

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
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
rs1057519942	PIK3CA	0.724	0.320	3	179203760	missense variant	G/A	snv			15
rs143044921	FREM2	0.827	0.280	13	38691375	missense variant	G/A;T	snv	3.5E-03		8
rs372359356	FRAS1	0.925	0.120	4	78337784	missense variant	G/A	snv	2.8E-05	3.5E-05	3
rs780263938	GLI3	0.925	0.120	7	41966347	missense variant	G/C	snv	8.4E-06		3