DisGeNET - a database of gene-disease associations

List of associated variants

Phosphatidylcholine measurement, C0523829

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
rs1535	FADS2	0.752	0.240	11	61830500	intron variant	A/G	snv		0.31	24
rs102275	TMEM258	0.827	0.320	11	61790331	non coding transcript exon variant	T/C	snv		0.47	18
rs174601	FADS2	0.925	0.080	11	61855668	non coding transcript exon variant	C/A;T	snv			12
rs174574	FADS2	1.000	0.080	11	61832870	intron variant	A/C	snv		0.55	7
rs28456	FADS1 ; FADS2	0.925	0.120	11	61822009	intron variant	A/C;G	snv			5
rs174567	FADS1 ; FADS2	1.000	0.080	11	61825533	intron variant	A/G;T	snv			4
rs174580	FADS2	1.000	0.080	11	61839170	intron variant	A/C;G	snv			4
rs2072114	FADS2	1.000	0.080	11	61837743	intron variant	A/G	snv	0.19	0.16	4
rs174564	FADS2 ; FADS1	1.000	0.080	11	61820833	intron variant	A/G	snv		0.30	4
rs869112				11	61649498	intergenic variant	A/G	snv		0.17	2
rs174465	FADS3			11	61891328	synonymous variant	C/T	snv	0.58	0.52	2
rs387137	LINC02733			11	62062697	intron variant	G/C;T	snv			2
rs3741259	SYT7			11	61514878	3 prime UTR variant	C/T	snv		0.13	2
rs2248325	BLK			8	11539365	intron variant	A/G	snv		0.42	1
rs146717710	COL5A1			9	134658019	intron variant	C/T	snv		8.5E-03	1
rs74556176	RAB3IL1			11	61943075	intergenic variant	G/A	snv		4.1E-02	1
rs76368648	RAB3IL1			11	61943400	intergenic variant	C/T	snv		4.1E-02	1
rs79972157	RAB3IL1			11	61934995	upstream gene variant	C/G	snv		3.8E-02	1
rs143203352	RBFOX3			17	79297851	intron variant	T/C	snv		6.5E-03	1