DisGeNET - a database of gene-disease associations

List of shared variants

LOEYS-DIETZ SYNDROME 4, C3553762

Disease: RIENHOFF SYNDROME

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
rs587777617	TGFB3 ; IFT43	0.925		14	75963343	missense variant	C/T	snv			2
rs796051885	TGFB3 ; IFT43	0.925		14	75963344	missense variant	G/A	snv			2