DisGeNET - a database of gene-disease associations

List of shared variants

Congenital Epicanthus, C0678230

Disease: Low-set, posteriorly rotated ears

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
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv			34
rs397517148	SOS1	0.776	0.200	2	39023128	missense variant	C/T	snv			27