DisGeNET - a database of gene-disease associations

List of shared variants

Dysmorphic facies, C0424503

Disease: Strabismus

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
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv			73
rs1553196101	CDC42	0.925	0.080	1	22086507	missense variant	T/C	snv			8
rs1553196134	CDC42	0.925	0.080	1	22086856	missense variant	C/T	snv			6
rs878853165	HOOK2 ; MAST1	0.882	0.200	19	12843558	missense variant	C/T	snv			6