DisGeNET - a database of gene-disease associations

Source: GWASDB

Variants associated to the Disease: Serum LDL cholesterol measurement ×

Variants associated to the Gene: FADS2 ×

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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
rs1535	FADS2	0.752	0.240	11	61830500	intron variant	A/G	snv		0.31	10
rs174570	FADS2	0.882	0.200	11	61829740	intron variant	C/T	snv		0.15	10
rs174546	FADS1 ; FADS2	0.807	0.200	11	61802358	3 prime UTR variant	C/T	snv		0.28	9
rs174576	FADS2	0.851	0.200	11	61836038	intron variant	C/A;T	snv			9
rs174548	FADS2 ; FADS1	0.851	0.160	11	61803876	5 prime UTR variant	C/G;T	snv			9
rs174601	FADS2	0.925	0.080	11	61855668	non coding transcript exon variant	C/A;T	snv			8
rs174541	FADS2	1.000	0.080	11	61798436	intron variant	T/C	snv		0.29	4