DisGeNET - a database of gene-disease associations

List of shared variants

Mitral Valve Prolapse Syndrome, C0026267

Disease: Marfan Syndrome

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
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
rs1566911709	FBN1	0.742	0.240	15	48495502	frameshift variant	T/-	delins			15
rs113422242	FBN1	0.763	0.240	15	48510065	stop gained	G/A	snv		7.0E-06	14
rs1555397413	FBN1	0.732	0.280	15	48470705	missense variant	T/C	snv			13
rs397515804	FBN1	0.776	0.200	15	48472628	missense variant	C/A;T	snv			11
rs113812345	FBN1	0.790	0.160	15	48513591	stop gained	G/A	snv			10
rs1555398397	FBN1	0.807	0.240	15	48485436	missense variant	C/T	snv			10
rs1555395001	FBN1	0.807	0.200	15	48434600	missense variant	A/G	snv			8
rs1566913974	FBN1	0.807	0.200	15	48505029	missense variant	A/C	snv			8
rs1555393889	FBN1	0.851	0.200	15	48415758	missense variant	T/A;C	snv			4