DisGeNET - a database of gene-disease associations

List of associated variants

Glaucoma, C0017601

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 GENOME	Num. diseases
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
rs361525	TNF	0.562	0.760	6	31575324	upstream gene variant	G/A	snv	4.6E-02	62
rs397514698	GNAQ	0.667	0.400	9	77797577	missense variant	C/T	snv		52
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins	0.50	48
rs1799724	LTA ; TNF	0.600	0.680	6	31574705	upstream gene variant	C/T	snv	8.5E-02	47
rs1063192	CDKN2B ; CDKN2B-AS1	0.695	0.520	9	22003368	3 prime UTR variant	G/A;T	snv		24
rs4977756	CDKN2B-AS1	0.683	0.440	9	22068653	intron variant	G/A	snv	0.64	24
rs3217992	CDKN2B-AS1 ; CDKN2B	0.683	0.480	9	22003224	3 prime UTR variant	C/T	snv	0.32	22
rs1800630	TNF ; LOC100287329 ; LTA	0.701	0.480	6	31574699	upstream gene variant	C/A	snv	0.14	17
rs2157719	CDKN2B-AS1	0.708	0.360	9	22033367	non coding transcript exon variant	C/T	snv	0.71	17
rs12913832	HERC2	0.763	0.200	15	28120472	intron variant	A/G	snv	0.50	15
rs2165241	LOXL1-AS1 ; LOXL1	0.716	0.360	15	73929861	intron variant	T/C	snv	0.60	15
rs1412829	CDKN2B-AS1	0.742	0.400	9	22043927	intron variant	A/G	snv	0.28	14
rs2149356	TLR4	0.742	0.360	9	117711921	intron variant	T/G	snv	0.54	14
rs7865618	CDKN2B-AS1	0.776	0.240	9	22031006	non coding transcript exon variant	G/A;T	snv		11
rs1256031	ESR2	0.790	0.200	14	64279461	intron variant	G/A;T	snv	0.57	9
rs74315330	MYOCOS ; MYOC	0.776	0.080	1	171636331	missense variant	G/A	snv		9
rs10120688	CDKN2B-AS1	0.807	0.080	9	22056500	intron variant	G/A	snv	0.50	7
rs11024102	PLEKHA7	0.851	0.040	11	16987058	intron variant	T/C	snv	0.20	7
rs2567206	CYP1B1 ; CYP1B1-AS1	0.827	0.200	2	38076389	non coding transcript exon variant	G/A	snv	0.23	7
rs28939688	OPTN	0.807	0.040	10	13109270	missense variant	G/A	snv		7
rs4656461		0.827	0.040	1	165717968	TF binding site variant	G/A	snv	0.85	7
rs523096	CDKN2B-AS1	0.827	0.080	9	22019130	intron variant	A/G	snv	0.30	7
rs7049105	CDKN2B-AS1	0.807	0.120	9	22028802	intron variant	A/G	snv	0.58	7