DisGeNET - a database of gene-disease associations

List of associated variants

Retinitis punctata albescens (disorder), C1405854

Source: CLINVAR ×

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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
rs104893775	RHO	0.807	0.160	3	129530917	missense variant	C/T	snv			3
rs28933990	RLBP1	0.851	0.080	15	89210794	missense variant	G/A;C	snv	8.6E-05; 4.8E-06		3
rs137853290	RLBP1	0.882	0.040	15	89215133	missense variant	C/G;T	snv	8.0E-06; 8.0E-06		2
rs137853291	RLBP1	0.851	0.080	15	89211750	missense variant	A/T	snv	4.4E-05	2.8E-05	2
rs1567124404	RLBP1	0.925	0.080	15	89218627	frameshift variant	T/-	delins			2
rs786205626	RLBP1	0.925	0.080	15	89217169	inframe deletion	GCAGGAAGAAGC/-	delins			2