DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Retinitis Pigmentosa ×

Variants associated to the Gene: KLHL7 ×

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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
rs137853113	KLHL7	0.925	0.080	7	23140784	missense variant	C/T	snv			2
rs1182983579	KLHL7	1.000	0.080	7	23125163	missense variant	A/G	snv			1
rs137853112	KLHL7	0.925	0.080	7	23140775	missense variant	G/A	snv			1
rs1554286384	KLHL7	1.000	0.080	7	23125152	missense variant	T/C	snv			1