DisGeNET - a database of gene-disease associations

List of associated variants

Larsen syndrome, C0175778

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
rs80356503	FLNB	0.925	0.080	3	58138491	missense variant	G/A	snv			2
rs80356504	FLNB	0.925	0.160	3	58077255	missense variant	G/A	snv			2
rs80356506	FLNB	0.925	0.080	3	58077235	missense variant	T/G	snv			2
rs80356507	FLNB	0.925	0.080	3	58081689	missense variant	C/G	snv			2
rs80356508	FLNB	0.925	0.080	3	58081668	missense variant	G/A	snv			2
rs80356509	FLNB	0.925	0.080	3	58097911	missense variant	G/A	snv			2
rs80356510	FLNB	0.925	0.080	3	58097918	missense variant	G/A	snv			2
rs80356511	FLNB	0.925	0.080	3	58130810	missense variant	T/G	snv			2
rs80356513	FLNB	0.925	0.080	3	58136063	missense variant	G/A	snv			2
rs80356514	FLNB	0.925	0.080	3	58136082	missense variant	T/A	snv			2
rs80356515	FLNB	0.925	0.080	3	58136115	missense variant	C/T	snv			2
rs80356516	FLNB	0.925	0.080	3	58145995	missense variant	G/A	snv			2
rs770248489	FLNB	1.000	0.080	3	58142711	missense variant	A/G	snv	4.0E-06	7.0E-06	1
rs868820857	FLNB	1.000	0.080	3	58138348	missense variant	C/T	snv			1