DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Body mass index ×

Variants associated to the Gene: NPC1 ×

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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
rs177430	NPC1 ; RMC1			18	23506161	intron variant	C/A;T	snv			4
rs1808579	RMC1 ; NPC1			18	23524924	intron variant	C/T	snv		0.47	3
rs891387	RMC1 ; NPC1			18	23523945	intron variant	T/C	snv		0.55	2
rs1788799	NPC1	1.000	0.080	18	23544981	missense variant	C/A;G;T	snv	4.2E-06; 0.73		1
rs6507716	NPC1			18	23535096	intron variant	A/G	snv		0.51	1
rs1788808	NPC1 ; RMC1			18	23510059	intron variant	A/C;G	snv			1
rs1788820	NPC1 ; RMC1			18	23521980	intron variant	A/G	snv		0.69	1