DisGeNET - a database of gene-disease associations

List of associated variants

Strabismus, C0038379

Source: ALL

Results per page

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
rs1555483699	GRIN2A	0.851	0.120	16	9768994	missense variant	C/T	snv			10
rs1564045331	XPA	0.716	0.320	9	97687208	inframe deletion	ATTCTT/-	delins			35
rs778543124	XPA	0.716	0.320	9	97675476	frameshift variant	AGTCTTACGGTACA/-	delins	6.8E-05	6.3E-05	35
rs758361736	KIF7	0.776	0.240	15	89649836	missense variant	T/G	snv	1.3E-05	1.4E-05	16
rs376823382	LOC107984363 ; TYR	0.827	0.200	11	89284940	missense variant	A/G	snv	1.9E-04	2.2E-04	8
rs28940877	LOC107984363 ; TYR	0.807	0.200	11	89178218	missense variant	T/C	snv	4.0E-06	2.1E-05	9
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
rs1057518843	GALC	0.790	0.240	14	87988523	missense variant	C/T	snv			19
rs377274761	GALC	0.776	0.240	14	87968393	missense variant	C/T	snv	8.0E-06	2.8E-05	20
rs139751598	PYCR1	0.851	0.240	17	81934931	missense variant	C/T	snv	2.4E-05	4.2E-05	13
rs755604487	PHIP	0.790	0.200	6	79026079	stop gained	G/A;C	snv			10
rs1555570110	MPDU1	0.827	0.240	17	7586766	missense variant	A/C	snv			9
rs1555570093	MPDU1	0.807	0.280	17	7586699	missense variant	G/A	snv			12
rs886039807	TMEM231	0.776	0.480	16	75541466	non coding transcript exon variant	A/G	snv	4.2E-06		11
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
rs1057518926	FOXP1	0.925	0.120	3	70977675	missense variant	G/C	snv			5
rs121908595	MAP2K1	0.827	0.280	15	66436843	missense variant	A/G	snv	4.0E-06		8
rs137854539	GNAS	0.716	0.520	20	58903703	missense variant	C/T	snv			28
rs1567815105	ADGRG1	0.807	0.240	16	57660794	frameshift variant	-/T	delins			7
rs1057518848	TCF4	0.827	0.240	18	55229003	frameshift variant	-/ATTG	delins			15
rs1569509136	HUWE1	0.708	0.400	X	53647576	splice acceptor variant	T/C	snv			24
rs1557006903	HUWE1	0.851	0.280	X	53615815	missense variant	C/T	snv			5