DisGeNET - a database of gene-disease associations

List of associated variants

Cataract, C0086543

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
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs2228000	XPC	0.585	0.560	3	14158387	missense variant	G/A	snv	0.24	0.21	53
rs243865	MMP2	0.600	0.640	16	55477894	intron variant	C/T	snv		0.19	48
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	37
rs113624356	BBS1 ; ZDHHC24	0.724	0.400	11	66526181	missense variant	T/G	snv	1.5E-03	2.1E-03	22
rs1135401778	BPTF	0.752	0.400	17	67854315	frameshift variant	T/-	del			20
rs1064796765	DYNC1H1	0.763	0.240	14	102002950	missense variant	G/A	snv			19
rs863225045	ALDH18A1	0.790	0.360	10	95637327	missense variant	C/A;T	snv			15
rs1050828	G6PD	0.790	0.200	X	154536002	missense variant	C/T	snv	9.1E-03	3.6E-02	15
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
rs1048661	LOXL1-AS1 ; LOXL1	0.732	0.320	15	73927205	missense variant	G/T	snv	0.33	0.28	14
rs1554781700	COL5A1	0.851	0.240	9	134701287	missense variant	G/T	snv			12
rs104894201	CRYAB	0.763	0.280	11	111908934	missense variant	T/C	snv			12
rs2070074	GALT	0.742	0.360	9	34649445	missense variant	A/G	snv	9.2E-02	7.4E-02	12
rs142285818	RHO	0.807	0.120	3	129532727	missense variant	C/G;T	snv	9.7E-04	4.1E-04	11
rs5030732	UCHL1 ; UCHL1-AS1	0.790	0.160	4	41257616	missense variant	C/A	snv	0.24	0.16	10
rs150516929	CRYAB	0.807	0.240	11	111908832	missense variant	C/T	snv	9.1E-04	8.7E-04	8
rs727502810	RIC3 ; TUB	0.827	0.160	11	8100575	frameshift variant	AGAG/-;AG	delins			8
rs33972313	SLC23A1	0.790	0.160	5	139379813	missense variant	C/A;G;T	snv	4.0E-06; 2.7E-02		8
rs11574311	WRN	0.776	0.160	8	31119144	intron variant	T/C	snv		0.16	8
rs6596473	SLC23A1	0.807	0.120	5	139374887	intron variant	G/C;T	snv			7
rs2725338	WRN	0.790	0.120	8	31042501	intron variant	G/A	snv		7.6E-02	7
rs524952		0.827	0.040	15	34713685	intergenic variant	T/A	snv		0.50	6