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	Num. diseases
rs1566910251	FBN1	0.925	0.160	15	48489859	frameshift variant	-/T	ins	2
rs1060501027	FBN1	1.000	0.160	15	48503871	frameshift variant	-/T	ins	1
rs1060501042	FBN1	1.000	0.160	15	48421606	frameshift variant	-/T	ins	1
rs1555393653	FBN1	1.000	0.160	15	48412646	frameshift variant	-/T	ins	1
rs1555399093	FBN1	1.000	0.160	15	48494233	frameshift variant	-/CC	ins	1
rs1555399204	FBN1	1.000	0.160	15	48495540	frameshift variant	-/C	ins	1
rs1566898852	FBN1	0.925	0.160	15	48446820	splice acceptor variant	TGTCT/AGTCA	mnv	2
rs1566901570	FBN1	0.925	0.160	15	48456636	splice donor variant	CC/AA	mnv	2
rs1566911331	FBN1	0.925	0.160	15	48494203	splice donor variant	CC/TT	mnv	2
rs1555396205	FBN1	1.000	0.160	15	48452636	missense variant	CA/AT	mnv	1
rs1555405530	FBN1	1.000	0.160	15	48610768	stop gained	GC/TT	mnv	1
rs397515835	FBN1	1.000	0.160	15	48432996	splice region variant	AG/CT	mnv	1
rs794728319	FBN1	0.851	0.160	15	48427731	frameshift variant	AT/-	del	4
rs193922198	FBN1	0.882	0.160	15	48488383	frameshift variant	C/-	del	3
rs1060501033	FBN1	0.925	0.160	15	48411045	frameshift variant	A/-	del	2
rs1060501060	FBN1	0.925	0.160	15	48425401	frameshift variant	T/-	del	2
rs1555394928	FBN1	0.925	0.160	15	48432960	frameshift variant	C/-	del	2
rs1555395228	FBN1	0.925	0.160	15	48437374	frameshift variant	C/-	del	2
rs1555396837	FBN1	0.925	0.160	15	48463902	frameshift variant	T/-	del	2
rs1555396861	FBN1	0.925	0.160	15	48463999	frameshift variant	A/-	del	2
rs1555397199	FBN1	0.925	0.160	15	48468439	frameshift variant	G/-	del	2
rs1555397652	FBN1	0.925	0.160	15	48474277	frameshift variant	T/-	del	2
rs1555398753	FBN1	0.925	0.160	15	48489679	splice donor variant	GACCAAACAGTTAAAAACAAAAAGTTCATACTTTTCTAAACAAAGATAATTATATAATTCAGAAAGCAAAAAGTCCATGCTGGGATGATCAAGTAGAGTGCTGAGATCATGAAAATGCATCCTATTTGTCTAAAAAGGGAGGCAATTGGCCATGGAAAACGTAACATTGTACCTTTGAAGAAAGGCTTTCCATT/-	del	2
rs1555398832	FBN1	0.925	0.160	15	48490040	frameshift variant	CGTCCTC/-	del	2
rs1555401679	FBN1	0.925	0.160	15	48537686	frameshift variant	AG/-	del	2