DisGeNET - a database of gene-disease associations

List of shared variants

Primary angle-closure glaucoma, C0017606

Disease: Angle Closure Glaucoma

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs17576	MMP9	0.557	0.760	20	46011586	missense variant	A/G	snv	0.39	0.36	73
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs1001179	CAT	0.641	0.680	11	34438684	upstream gene variant	C/T	snv		0.16	33
rs17577	SLC12A5-AS1 ; MMP9	0.649	0.520	20	46014472	missense variant	G/A;C	snv	0.16		31
rs2250889	SLC12A5-AS1 ; MMP9	0.667	0.520	20	46013767	missense variant	G/C;T	snv	0.88; 1.6E-05		24
rs2165241	LOXL1-AS1 ; LOXL1	0.716	0.360	15	73929861	intron variant	T/C	snv		0.60	15
rs3825942	LOXL1 ; LOXL1-AS1	0.716	0.320	15	73927241	missense variant	G/A;C;T	snv	0.18; 4.5E-06		15
rs1043618	HSPA1L ; HSPA1A	0.752	0.280	6	31815730	5 prime UTR variant	G/A;C;T	snv	0.39; 2.0E-05; 4.0E-06		10
rs11024102	PLEKHA7	0.851	0.040	11	16987058	intron variant	T/C	snv		0.20	7
rs1676486	COL11A1	0.851	0.120	1	102888582	missense variant	A/G;T	snv	0.80; 4.0E-06		7
rs3753841	COL11A1	0.827	0.080	1	102914362	missense variant	G/A	snv	0.61	0.49	7
rs4656461		0.827	0.040	1	165717968	TF binding site variant	G/A	snv		0.85	7
rs1015213		0.851	0.040	8	51974981	intron variant	C/T	snv		0.14	6
rs2664538	MMP9	0.827	0.200	20	46011586	missense variant	A/G	snv			6
rs3918249	MMP9	0.807	0.200	20	46009497	intron variant	T/C	snv		0.41	6
rs1900004	LINC02640	0.827	0.040	10	68241124	intron variant	C/T	snv		0.39	5
rs3735520	HGF	0.851	0.040	7	81771623	upstream gene variant	G/A;T	snv			4
rs3788317	TXNRD2	0.851	0.040	22	19902302	intron variant	G/T	snv		0.30	4
rs3793342	NOS3	0.851	0.040	7	150998107	intron variant	G/A	snv		0.13	4
rs11669977	NTF4	0.882	0.040	19	49060867	non coding transcript exon variant	A/G	snv		0.17	3