DisGeNET - a database of gene-disease associations

List of shared variants

Arachnodactyly, C0003706

Disease: Disproportionate tall stature

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
rs137854466	FBN1	0.724	0.320	15	48411280	stop gained	G/A;C	snv	4.0E-05; 8.0E-06		23
rs111854391	TGFBR1	0.716	0.280	9	99138006	stop gained	C/A;T	snv	4.0E-06		18
rs112550005	FBN1	0.742	0.240	15	48425829	stop gained	G/A	snv			18
rs113422242	FBN1	0.763	0.240	15	48510065	stop gained	G/A	snv		7.0E-06	14
rs137854461	FBN1	0.790	0.280	15	48437026	missense variant	T/C	snv			12
rs113812345	FBN1	0.790	0.160	15	48513591	stop gained	G/A	snv			10
rs397515789	FBN1	0.776	0.240	15	48488112	splice donor variant	C/A;T	snv			10
rs1085308004	FBN1	0.807	0.240	15	48425420	missense variant	A/G	snv			9