DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Retinitis Pigmentosa ×

Variants associated to the Gene: C8orf37 ×

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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
rs387907136	C8orf37 ; C8orf37-AS1	0.882	0.080	8	95247712	missense variant	G/A	snv	2.0E-05	7.0E-06	3
rs387907137	C8orf37 ; C8orf37-AS1	0.882	0.080	8	95247696	missense variant	T/C	snv			2