DisGeNET - a database of gene-disease associations

List of associated variants

RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, C1836081

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
rs121912893	COL2A1	0.708	0.400	12	47983721	stop gained	G/A;T	snv			15
rs121912894	COL2A1	0.925	0.080	12	47993475	missense variant	C/T	snv			2