DisGeNET - a database of gene-disease associations

List of shared variants

Cataract, C0086543

Disease: Bilateral cataracts (disorder)

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
rs150857132	CRYGD ; LOC100507443	0.851	0.200	2	208124183	missense variant	C/A;T	snv	4.4E-04; 4.0E-06		4
rs28931605	LOC100507443 ; CRYGD	0.807	0.200	2	208124294	missense variant	G/A;T	snv	4.2E-06; 1.3E-05		6
rs398122944	LOC100507443 ; CRYGC	0.851	0.200	2	208128257	stop gained	C/G;T	snv			4
rs587778872	CRYGC ; LOC100507443	0.807	0.200	2	208128231	missense variant	G/A;C	snv	8.0E-06		6
rs80338829	MYH9	0.851	0.200	22	36295069	missense variant	G/A	snv			5
rs150516929	CRYAB	0.807	0.240	11	111908832	missense variant	C/T	snv	9.1E-04	8.7E-04	8
rs104894201	CRYAB	0.763	0.280	11	111908934	missense variant	T/C	snv			12
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
rs2228000	XPC	0.585	0.560	3	14158387	missense variant	G/A	snv	0.24	0.21	53