DisGeNET - a database of gene-disease associations

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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
rs174593	FADS2			11	61851359	intron variant	T/C	snv		0.24	2
rs174597	FADS2			11	61853568	intron variant	G/A;C;T	snv			2
rs174605	FADS2			11	61859449	intron variant	G/T	snv		0.20	2
rs174611	FADS2			11	61860409	intron variant	T/C	snv		0.21	2
rs174616	FADS2	1.000	0.080	11	61861650	intron variant	G/A	snv		0.51	3
rs174634	MIR6746 ; FADS3			11	61879915	intron variant	G/C;T	snv			2
rs17762402	TMEM258 ; MYRF			11	61785729	intron variant	G/A	snv		4.8E-02	2
rs2072114	FADS2	1.000	0.080	11	61837743	intron variant	A/G	snv	0.19	0.16	4
rs2269928	TMEM258 ; MYRF			11	61770057	intron variant	T/G	snv		0.18	2
rs2524299	FADS2			11	61837310	intron variant	A/T	snv		0.17	2
rs2727270	FADS2			11	61835765	intron variant	C/T	snv		0.12	2
rs2727271	FADS2			11	61835886	intron variant	A/T	snv		0.12	2
rs2845573	FADS2	1.000	0.040	11	61834436	intron variant	A/G	snv		9.7E-02	3
rs2851682	FADS2			11	61848540	intron variant	A/G	snv		9.9E-02	5
rs4453795	FGF12			3	192376186	intron variant	A/G;T	snv			2
rs4666002	ZNF512	0.925	0.120	2	27617773	intron variant	G/A;C	snv			6
rs4775041	ALDH1A2	1.000	0.040	15	58382496	intron variant	G/C	snv		0.24	8
rs498793	FADS2	1.000	0.040	11	61857233	intron variant	T/C	snv		0.62	3
rs509360	MYRF ; TMEM258			11	61781087	intron variant	A/G	snv	0.61	0.52	3
rs526126	FADS2	1.000	0.040	11	61857413	intron variant	G/C;T	snv	0.81; 8.0E-06		3
rs579383	MYRF ; TMEM258			11	61769111	intron variant	G/A	snv		0.58	2
rs603424	PKD2L1	1.000	0.080	10	100315722	intron variant	G/A	snv		0.34	13
rs650436	TMEM258 ; MYRF			11	61768958	intron variant	C/T	snv		0.39	2
rs7394871	FADS3			11	61885042	intron variant	A/C;T	snv			2
rs780093	GCKR	0.763	0.240	2	27519736	intron variant	T/C	snv		0.68	30