DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Metabolic Syndrome X ×

Variants associated to the Gene: NOS3 ×

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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
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		1
rs2070744	NOS3	0.608	0.680	7	150992991	intron variant	C/T	snv		0.70	1