DisGeNET - a database of gene-disease associations

List of shared variants

Sunken eyes, C0423224

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
rs1562846694	ACTL6B ; TFR2	0.763	0.320	7	100643252	inframe deletion	TTCGCTCCACGCACT/-	delins			32
rs1057518848	TCF4	0.827	0.240	18	55229003	frameshift variant	-/ATTG	delins			15
rs1325394060	HUWE1	0.851	0.320	X	53534144	missense variant	C/G;T	snv		9.5E-06	9
rs1556913258	HUWE1	0.851	0.280	X	53536580	missense variant	G/C	snv			7
rs1556978515	HUWE1	0.851	0.280	X	53591113	missense variant	T/C	snv			7
rs886041876	HUWE1	0.851	0.280	X	53551078	missense variant	G/A	snv			7
rs782393002	HUWE1	0.882	0.280	X	53549413	missense variant	A/C;G	snv	1.1E-05		6
rs1556913180	HUWE1	0.882	0.280	X	53536488	missense variant	T/C	snv			5
rs1557006873	HUWE1	0.925	0.280	X	53615786	missense variant	A/C	snv			4