DisGeNET - a database of gene-disease associations

List of shared variants

Mitral Valve Prolapse Syndrome, C0026267

Disease: Increased tendency to bruise

Source: ALL

Results per page

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
rs1443187318	AEBP1	0.882	0.080	7	44108060	stop gained	-/A	delins	1.3E-05		14
rs1554781700	COL5A1	0.851	0.240	9	134701287	missense variant	G/T	snv			12