DisGeNET - a database of gene-disease associations

List of shared variants

Strabismus, C0038379

Disease: Byzanthine arch palate

Source: CLINVAR ×

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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
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
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
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv			53
rs1557043622	SLC35A2	0.695	0.400	X	48909843	missense variant	C/A	snv			46
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv			34
rs1562846694	ACTL6B ; TFR2	0.763	0.320	7	100643252	inframe deletion	TTCGCTCCACGCACT/-	delins			32
rs1553212868	POGZ	0.807	0.280	1	151406264	frameshift variant	G/-	delins			17
rs1057519443	MPP4	0.882	0.200	2	201675255	missense variant	A/G	snv			7