DisGeNET - a database of gene-disease associations

List of associated variants

Disproportionate short stature, C0878659

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
rs1400419650	TRIP11	0.708	0.320	14	92005938	stop gained	C/A;T	snv	4.0E-06	1.4E-05	38
rs1555386022	TRIP11	0.708	0.320	14	92003418	splice donor variant	C/A	snv			38
rs1057516045	LBR	0.925	0.160	1	225403404	stop gained	G/A	snv	1.6E-05		8
rs1057519335	NPR2	0.925	0.040	9	35792968	missense variant	T/A	snv			5
rs1272546759	GNAS	0.925	0.120	20	58909718	missense variant	C/G;T	snv		7.0E-06	4
rs1565256477	MMP13	0.925	0.120	11	102955402	missense variant	A/G	snv			4