DisGeNET - a database of gene-disease associations

List of associated variants

GELEOPHYSIC DYSPLASIA 1, C3278147

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
rs113994121	ADAMTSL2	0.925	0.080	9	133540625	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		2
rs113994122	ADAMTSL2	0.925	0.080	9	133539799	missense variant	G/A;T	snv	1.3E-05; 1.3E-05		2
rs113994123	ADAMTSL2	0.925	0.080	9	133539801	missense variant	G/A	snv	6.4E-06	2.2E-05	2
rs113994124	ADAMTSL2	0.925	0.080	9	133570346	missense variant	G/A	snv			2
rs113994125	ADAMTSL2	0.925	0.080	9	133570501	stop gained	G/A	snv			2
rs387907065	ADAMTSL2	0.925	0.080	9	133540980	missense variant	C/T	snv			2
rs1395219766	ADAMTSL2	1.000		9	133537464	missense variant	G/C	snv			1
rs387907064	ADAMTSL2	1.000		9	133537529	missense variant	G/A	snv		7.0E-06	1
rs761886575	ADAMTSL2	1.000		9	133540684	missense variant	G/A	snv	2.0E-05	2.1E-05	1
rs764516811	ADAMTSL2	1.000		9	133540678	missense variant	G/A	snv	2.0E-05	3.5E-05	1
rs775621284	ADAMTSL2	1.000		9	133538347	splice acceptor variant	A/G	snv	4.0E-06		1
rs776178041	ADAMTSL2	1.000		9	133540660	missense variant	C/T	snv	1.2E-05	7.0E-06	1