DisGeNET - a database of gene-disease associations

List of shared variants

Large head (disorder), C2243051

Disease: Downward slant of palpebral fissure

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
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins			43
rs1232880706	FBN1	0.689	0.440	15	48526247	stop gained	C/A;T	snv			36
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs1563183492	AUTS2	0.708	0.520	7	70766248	missense variant	C/T	snv			32
rs1554121443	SYNGAP1 ; MIR5004	0.742	0.280	6	33438873	stop gained	C/T	snv			29
rs1568718508	RIN2	1.000	0.200	20	19992201	frameshift variant	-/C	delins			6