DisGeNET - a database of gene-disease associations

List of associated variants

Osteoma cutis, C0334041

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
rs1057518907	GNAS	0.732	0.320	20	58891811	stop gained	C/G;T	snv			16
rs137854530	GNAS	0.776	0.240	20	58891727	start lost	A/G;T	snv			8
rs587776829	GNAS	0.882	0.200	20	58909194	frameshift variant	GACT/-	delins			3
rs1146031	ACVR1	0.925	0.200	2	157770468	synonymous variant	C/T	snv	0.97	0.92	2
rs893327176	GNAS	0.925	0.200	20	58910710	missense variant	C/T	snv		7.0E-06	2