DisGeNET - a database of gene-disease associations

List of associated variants

Soft drusen, C1720452

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
rs1061170	CFH	0.561	0.720	1	196690107	missense variant	C/T	snv	0.68	0.64	72
rs148060787	BEST1 ; FTH1	0.851	0.080	11	61962853	missense variant	C/G;T	snv	4.4E-04		5
rs1800995	BEST1 ; LOC107984334	0.851	0.080	11	61955906	missense variant	GC/AA	mnv			5
rs1805142	BEST1 ; LOC107984334	0.851	0.080	11	61955825	stop gained	G/C;T	snv	2.7E-05		5
rs281865275	LOC107984334 ; BEST1	0.851	0.080	11	61957397	missense variant	C/G;T	snv	8.0E-06; 2.8E-05		5