DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Strabismus ×

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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
rs758361736	KIF7	0.776	0.240	15	89649836	missense variant	T/G	snv	1.3E-05	1.4E-05	16
rs121908595	MAP2K1	0.827	0.280	15	66436843	missense variant	A/G	snv	4.0E-06		8
rs1555462347	USP7	0.716	0.520	16	8901028	frameshift variant	CT/-	delins			34
rs28936415	PMM2	0.752	0.320	16	8811153	missense variant	G/A	snv	4.1E-03	3.7E-03	22
rs376754460	PMM2	0.807	0.280	16	8801859	missense variant	G/A;C;T	snv	8.0E-06		12
rs886039807	TMEM231	0.776	0.480	16	75541466	non coding transcript exon variant	A/G	snv	4.2E-06		11
rs1555483699	GRIN2A	0.851	0.120	16	9768994	missense variant	C/T	snv			10
rs1567815105	ADGRG1	0.807	0.240	16	57660794	frameshift variant	-/T	delins			7
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
rs139751598	PYCR1	0.851	0.240	17	81934931	missense variant	C/T	snv	2.4E-05	4.2E-05	13
rs1555570093	MPDU1	0.807	0.280	17	7586699	missense variant	G/A	snv			12
rs1555570110	MPDU1	0.827	0.240	17	7586766	missense variant	A/C	snv			9
rs1555743003	ASXL3	0.701	0.520	18	33740444	splice donor variant	G/A	snv			58
rs1057518848	TCF4	0.827	0.240	18	55229003	frameshift variant	-/ATTG	delins			15
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv			23
rs1568269273	NFIX	0.807	0.320	19	13025433	missense variant	G/A	snv			18
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			14
rs878853165	HOOK2 ; MAST1	0.882	0.200	19	12843558	missense variant	C/T	snv			6
rs1555736565	CACNA1A	0.925	0.080	19	13230191	missense variant	C/A;T	snv			3
rs730882213	ADAT3 ; SCAMP4	0.925	0.080	19	1912477	missense variant	G/A	snv		7.0E-06	3
rs137854539	GNAS	0.716	0.520	20	58903703	missense variant	C/T	snv			27
rs148677674	LZTR1	0.882	0.160	22	20994988	missense variant	C/A;T	snv	2.4E-05; 1.6E-04		3
rs1557043622	SLC35A2	0.695	0.400	X	48909843	missense variant	C/A	snv			46