DisGeNET - a database of gene-disease associations

List of associated variants

Strabismus, C0038379

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
rs1568269273	NFIX	0.807	0.320	19	13025433	missense variant	G/A	snv			18
rs121909574	TFAP2A-AS2 ; TFAP2A	0.724	0.400	6	10404509	missense variant	T/A;C;G	snv	4.6E-06		17
rs758361736	KIF7	0.776	0.240	15	89649836	missense variant	T/G	snv	1.3E-05	1.4E-05	16
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			15
rs864309488	GMNN	0.776	0.440	6	24777296	missense variant	A/G	snv			14
rs869312824	GNB1	0.827	0.200	1	1804565	missense variant	A/G	snv			14
rs139751598	PYCR1	0.851	0.240	17	81934931	missense variant	C/T	snv	2.4E-05	4.2E-05	13
rs913477149	RFT1	0.851	0.160	3	53105728	missense variant	T/A;C	snv			13
rs1555570093	MPDU1	0.807	0.280	17	7586699	missense variant	G/A	snv			12
rs376754460	PMM2	0.807	0.280	16	8801859	missense variant	G/A;C;T	snv	8.0E-06		12
rs1060499733	DHX30	0.851	0.120	3	47846757	missense variant	A/G	snv			11
rs1172486173	MIR6890 ; QARS1	0.882	0.160	3	49099606	missense variant	T/C	snv	4.0E-06		11
rs185476065	MIR6890 ; QARS1	0.882	0.160	3	49100222	missense variant	G/A;C;T	snv	8.0E-05; 4.0E-06		11
rs869025195	RIT1	0.790	0.280	1	155904493	missense variant	T/G	snv			11
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
rs755604487	PHIP	0.790	0.200	6	79026079	stop gained	G/A;C	snv			10
rs1325394060	HUWE1	0.851	0.320	X	53534144	missense variant	C/G;T	snv		9.5E-06	9
rs1555570110	MPDU1	0.827	0.240	17	7586766	missense variant	A/C	snv			9
rs28940877	LOC107984363 ; TYR	0.807	0.200	11	89178218	missense variant	T/C	snv	4.0E-06	2.1E-05	9
rs869312823	GNB1	0.882	0.080	1	1806509	missense variant	T/C	snv			9
rs121908595	MAP2K1	0.827	0.280	15	66436843	missense variant	A/G	snv	4.0E-06		8
rs1553196101	CDC42	0.925	0.080	1	22086507	missense variant	T/C	snv			8
rs1564341846	POMT1	0.790	0.280	9	131508926	missense variant	C/A	snv			8
rs376823382	LOC107984363 ; TYR	0.827	0.200	11	89284940	missense variant	A/G	snv	1.9E-04	2.2E-04	8