DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Scoliosis, unspecified ×

Variants associated to the Gene: FBN1 ×

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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
rs113871094	FBN1	0.683	0.320	15	48465820	stop gained	G/A	snv			34
rs137854466	FBN1	0.724	0.320	15	48411280	stop gained	G/A;C	snv	4.0E-05; 8.0E-06		23
rs112550005	FBN1	0.742	0.240	15	48425829	stop gained	G/A	snv			18
rs727503057	FBN1	0.708	0.280	15	48505106	missense variant	G/A	snv		7.0E-06	16
rs727503054	FBN1	0.732	0.200	15	48420752	missense variant	A/G;T	snv	1.6E-05		15
rs113422242	FBN1	0.763	0.240	15	48510065	stop gained	G/A	snv		7.0E-06	14
rs1085308004	FBN1	0.807	0.240	15	48425420	missense variant	A/G	snv			9
rs761857514	FBN1	0.851	0.240	15	48452676	stop gained	C/A;T	snv	4.0E-06		8
rs1057518812	FBN1	0.827	0.240	15	48430742	missense variant	T/A	snv			6
rs1057519320	FBN1	0.807	0.160	15	48444574	missense variant	G/A	snv			3