DisGeNET - a database of gene-disease associations

List of associated variants

Nephronophthisis 1, C4551979

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
rs121907898	NPHP1	0.925	0.080	2	110201484	stop gained	A/C;T	snv	4.0E-06		2
rs121907899	NPHP1	0.925	0.080	2	110163048	missense variant	C/A;T	snv	4.0E-06; 1.2E-04		2
rs747861275	NPHP1	0.925	0.080	2	110146752	splice donor variant	C/-	del	8.0E-06		2
rs766524637	NPHP1	0.925	0.080	2	110168521	frameshift variant	T/-;TT	delins		2.1E-05	2
rs1233478832	NPHP1	1.000	0.080	2	110129185	splice donor variant	C/A	snv	4.0E-06	7.0E-06	1
rs1553484094	NPHP1	1.000	0.080	2	110144560	frameshift variant	TC/-	delins			1