DisGeNET - a database of gene-disease associations

List of associated variants

Abnormality of vision, C4025846

Source: CURATED ×

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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
rs1555741826	PRR12	0.776	0.280	19	49601646	frameshift variant	TGCC/-	delins			16
rs1555740650	PRR12	0.807	0.240	19	49596253	stop gained	G/T	snv			13
rs777103184	PCARE	0.827	0.040	2	29073071	stop gained	C/T	snv	8.0E-06		6
rs1560162116	ALG3	0.882	0.080	3	184242930	missense variant	T/C	snv			5
rs1560164682	ALG3	0.882	0.080	3	184245709	splice region variant	T/C	snv			5
rs1555740394	PRR12	0.882	0.120	19	49595234	frameshift variant	-/ACCACCC	delins			5
rs1057518922	RPE65	0.925	0.200	1	68431281	splice donor variant	C/A;T	snv	1.6E-05		4
rs1555618516	NF1	0.925	0.080	17	31258405	missense variant	G/C	snv			3