DisGeNET - a database of gene-disease associations

List of associated variants

Bilateral cataracts (disorder), C0521707

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
rs2228000	XPC	0.585	0.560	3	14158387	missense variant	G/A	snv	0.24	0.21	53
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
rs104894201	CRYAB	0.763	0.280	11	111908934	missense variant	T/C	snv			12
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
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
rs2725338	WRN	0.790	0.120	8	31042501	intron variant	G/A	snv		7.6E-02	7
rs1063147	BLM	0.807	0.120	15	90811275	synonymous variant	C/T	snv	0.15		6
rs587778872	CRYGC ; LOC100507443	0.807	0.200	2	208128231	missense variant	G/A;C	snv	8.0E-06		6
rs28931605	LOC100507443 ; CRYGD	0.807	0.200	2	208124294	missense variant	G/A;T	snv	4.2E-06; 1.3E-05		6
rs2725383	WRN	0.807	0.120	8	31075099	intron variant	C/G	snv		0.76	6
rs4733220	WRN	0.807	0.120	8	31043374	intron variant	A/G	snv		0.50	6
rs104893736	CRYGS	0.827	0.040	3	186539566	missense variant	C/A	snv			5
rs79121622	HSF4	0.827	0.080	16	67165833	missense variant	G/A	snv	3.3E-04	9.8E-05	5
rs80338829	MYH9	0.851	0.200	22	36295069	missense variant	G/A	snv			5
rs267607087	SPTLC1	0.851	0.120	9	92047261	missense variant	G/A;T	snv			5
rs150857132	CRYGD ; LOC100507443	0.851	0.200	2	208124183	missense variant	C/A;T	snv	4.4E-04; 4.0E-06		4
rs1114167307	GJA3	0.851	0.200	13	20143233	missense variant	G/A	snv			4
rs398122944	LOC100507443 ; CRYGC	0.851	0.200	2	208128257	stop gained	C/G;T	snv			4
rs1463326176	LOC100507443 ; CRYGD	0.851	0.200	2	208124291	frameshift variant	TGGG/-	del			4
rs104893685	BFSP2-AS1 ; BFSP2	0.882	0.040	3	133450432	missense variant	C/A;T	snv	4.0E-06; 2.0E-05		3
rs118203966	CHMP4B	0.882	0.040	20	33851064	missense variant	G/A	snv			3
rs121912973	CRYAA ; LOC107987300	0.882	0.040	21	43172105	missense variant	G/A	snv			3