DisGeNET - a database of gene-disease associations

List of shared variants

Tooth Crowding, C0040433

Disease: Arachnodactyly

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
rs1232880706	FBN1	0.689	0.440	15	48526247	stop gained	C/A;T	snv			36
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
rs137854461	FBN1	0.790	0.280	15	48437026	missense variant	T/C	snv			12
rs397515804	FBN1	0.776	0.200	15	48472628	missense variant	C/A;T	snv			11
rs1085308004	FBN1	0.807	0.240	15	48425420	missense variant	A/G	snv			9