DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Marfan Syndrome ×

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
rs193922241	FBN1	1.000	0.160	15	48412592	frameshift variant	C/-	del			1
rs61746008	FBN1	0.882	0.160	15	48412619	missense variant	G/A;C	snv	7.3E-04		3
rs1555393652	FBN1	0.925	0.160	15	48412622	stop gained	T/A	snv			2
rs794728321	FBN1	1.000	0.160	15	48412640	frameshift variant	-/A	delins			1
rs1555393653	FBN1	1.000	0.160	15	48412646	frameshift variant	-/T	ins			1
rs187553035	FBN1	1.000	0.160	15	48412646	stop gained	C/A;T	snv	1.4E-04		1
rs112642323	FBN1	1.000	0.160	15	48412647	stop gained	G/A;C	snv	4.0E-05		1
rs1555393657	FBN1	1.000	0.160	15	48412647	stop gained	-/T	delins			1
rs1060501065	FBN1	1.000	0.160	15	48412708	frameshift variant	T/-	delins			1
rs200309328	FBN1	0.925	0.160	15	48412715	stop gained	G/A;C	snv	4.0E-06		2
rs1566889188	FBN1	0.925	0.160	15	48412739	missense variant	A/G	snv			2
rs1555393666	FBN1	1.000	0.160	15	48412741	missense variant	T/C	snv			1
rs1555393825	FBN1	0.925	0.160	15	48415545	missense variant	A/C	snv			2
rs794728283	FBN1	0.925	0.160	15	48415549	missense variant	G/A	snv			2
rs1060501014	FBN1	1.000	0.160	15	48415567	missense variant	A/G	snv			1
rs1555393831	FBN1	1.000	0.160	15	48415572	missense variant	C/G;T	snv			1
rs1555393833	FBN1	0.925	0.160	15	48415573	missense variant	A/C	snv			2
rs794728281	FBN1	0.925	0.160	15	48415582	missense variant	C/A;T	snv			2
rs149062442	FBN1	0.925	0.160	15	48415588	stop gained	C/A;T	snv	2.0E-05	5.6E-05	2
rs1566889870	FBN1	0.925	0.160	15	48415600	missense variant	A/G	snv			2
rs112196241	FBN1	0.925	0.160	15	48415605	missense variant	T/C	snv			2
rs1555393844	FBN1	0.925	0.160	15	48415610	stop gained	G/T	snv			2
rs1555393847	FBN1	1.000	0.160	15	48415612	missense variant	A/C	snv			1
rs1555393848	FBN1	1.000	0.160	15	48415612	frameshift variant	-/G	delins			1
rs397515859	FBN1	1.000	0.160	15	48415632	missense variant	C/T	snv			1