DisGeNET - a database of gene-disease associations

List of associated variants

Glaucoma, Primary Open Angle, C0339573

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
rs1001179	CAT	0.641	0.680	11	34438684	upstream gene variant	C/T	snv		0.16	33
rs10012	CYP1B1 ; CYP1B1-AS1	0.716	0.280	2	38075247	missense variant	G/C	snv	0.31	0.36	16
rs10038177	WDR36	0.925	0.040	5	111100751	intron variant	C/T	snv	0.53	0.54	3
rs10063949	SLC23A1	0.882	0.080	5	139383837	intron variant	T/C	snv		0.48	4
rs1011970	CDKN2B-AS1	0.677	0.320	9	22062135	intron variant	G/T	snv		0.23	22
rs10120688	CDKN2B-AS1	0.807	0.080	9	22056500	intron variant	G/A	snv		0.50	7
rs10202118	LOC730100	1.000	0.040	2	51723186	intron variant	C/T	snv		0.67	1
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1042714	ADRB2	0.597	0.640	5	148826910	stop gained	G/C;T	snv	0.68		54
rs10451941	OPA1	0.882	0.160	3	193637313	intron variant	T/A;C	snv	0.42		3
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs10483727		0.851	0.040	14	60606157	upstream gene variant	T/C	snv		0.45	4
rs1048661	LOXL1-AS1 ; LOXL1	0.732	0.320	15	73927205	missense variant	G/T	snv	0.33	0.28	14
rs104886478	ASB10	0.925	0.040	7	151181233	synonymous variant	G/A	snv	5.0E-04	3.3E-04	2
rs1051993	PBX2 ; AGER	1.000	0.040	6	32185657	3 prime UTR variant	C/A	snv		5.2E-02	1
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1052990	CAV2	0.882	0.040	7	116508316	3 prime UTR variant	T/C;G	snv			3
rs1056827	CYP1B1 ; CYP1B1-AS1	0.683	0.400	2	38075034	missense variant	C/A	snv	0.32	0.35	24
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
rs1056837	CYP1B1	1.000	0.040	2	38071007	missense variant	A/G;T	snv	0.63		1
rs1057519378	CARD10	1.000	0.040	22	37516037	missense variant	C/A;T	snv	4.4E-06; 8.7E-06		1
rs1063192	CDKN2B ; CDKN2B-AS1	0.695	0.520	9	22003368	3 prime UTR variant	G/A;T	snv			24
rs11125375	LOC730100	1.000	0.040	2	51725011	intron variant	G/A	snv		0.61	1
rs111698934	FNDC3B	1.000	0.040	3	172315221	intron variant	C/G	snv		5.7E-03	1
rs11241095	WDR36	0.925	0.040	5	111103810	missense variant	A/C;G	snv	0.33		3