DisGeNET - a database of gene-disease associations

List of associated variants

Glaucoma, C0017601

Source: INFERRED ×

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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
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs397514698	GNAQ	0.667	0.400	9	77797577	missense variant	C/T	snv			41
rs267607093	SRD5A3	0.851	0.160	4	55359444	stop gained	G/A	snv	4.0E-06		14
rs12913832	HERC2	0.763	0.200	15	28120472	intron variant	A/G	snv		0.50	9
rs74315329	MYOC ; MYOCOS	0.732	0.240	1	171636338	stop gained	G/A	snv	1.1E-03	8.7E-04	9
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	8
rs1412829	CDKN2B-AS1	0.742	0.400	9	22043927	intron variant	A/G	snv		0.28	7
rs4977756	CDKN2B-AS1	0.683	0.440	9	22068653	intron variant	G/A	snv		0.64	7
rs564398	CDKN2B-AS1	0.716	0.360	9	22029548	3 prime UTR variant	T/C	snv	0.31	0.28	7
rs3217992	CDKN2B-AS1 ; CDKN2B	0.683	0.480	9	22003224	3 prime UTR variant	C/T	snv		0.32	6
rs1063192	CDKN2B ; CDKN2B-AS1	0.695	0.520	9	22003368	3 prime UTR variant	G/A;T	snv			6
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	6
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		6
rs523096	CDKN2B-AS1	0.827	0.080	9	22019130	intron variant	A/G	snv		0.30	5
rs7049105	CDKN2B-AS1	0.807	0.120	9	22028802	intron variant	A/G	snv		0.58	5
rs7865618	CDKN2B-AS1	0.776	0.240	9	22031006	non coding transcript exon variant	G/A;T	snv			5
rs4886782	LOXL1	1.000	0.040	15	73936469	intron variant	G/A	snv		0.27	5
rs4656461		0.827	0.040	1	165717968	TF binding site variant	G/A	snv		0.85	4
rs2093210	C14orf39	1.000	0.040	14	60490561	intron variant	C/T	snv		0.45	4
rs10120688	CDKN2B-AS1	0.807	0.080	9	22056500	intron variant	G/A	snv		0.50	4
rs10965219	CDKN2B-AS1	0.882	0.080	9	22053688	intron variant	A/G	snv		0.58	4
rs2157719	CDKN2B-AS1	0.708	0.360	9	22033367	non coding transcript exon variant	C/T	snv		0.71	4
rs944801	CDKN2B-AS1	0.882	0.120	9	22051671	intron variant	G/A;C	snv			4
rs9913911	GAS7	0.925	0.040	17	10127866	intron variant	A/G	snv		0.32	4
rs4337252	LOXL1	1.000	0.040	15	73934424	intron variant	G/C	snv		0.52	4