DisGeNET - a database of gene-disease associations

List of shared variants

Cone-Rod Dystrophy 2, C3489532

Disease: Retinitis Pigmentosa

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
rs61751374	ABCA4	0.776	0.160	1	94043413	missense variant	G/A	snv	1.7E-03	1.7E-03	10
rs61751392	ABCA4	0.827	0.080	1	94063250	missense variant	A/G	snv	1.5E-04	1.7E-04	7
rs61748436	CRX	0.851	0.080	19	47836264	missense variant	G/A	snv		1.4E-05	4
rs61749414	ABCA4	0.882	0.080	1	94062611	stop gained	G/A;T	snv			3
rs794727903	ABCA4	0.925	0.080	1	94080697	stop gained	G/A	snv			2