DisGeNET - a database of gene-disease associations

Source: GWASDB ×

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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
rs174547	FADS2 ; FADS1	0.742	0.240	11	61803311	intron variant	T/C	snv		0.28	10
rs6511720	LDLR	0.790	0.120	19	11091630	intron variant	G/T	snv		0.12	10
rs673548	APOB	0.925	0.120	2	21014672	intron variant	G/A;T	snv			10
rs1532085	ALDH1A2	0.882	0.080	15	58391167	intron variant	A/G;T	snv			9
rs1864163	CETP	0.882	0.120	16	56963321	intron variant	G/A	snv		0.26	8
rs1532624	CETP	0.851	0.160	16	56971567	intron variant	C/A	snv		0.34	7
rs4299376	LOC102725159 ; ABCG8	0.851	0.120	2	43845437	intron variant	G/C;T	snv			6
rs6982636				8	125467073	intron variant	G/A	snv		0.43	6
rs7499892	CETP			16	56972678	intron variant	C/G;T	snv			6
rs1160985	TOMM40	1.000	0.080	19	44900155	intron variant	C/T	snv		0.52	5
rs1167998	DOCK7			1	62465961	intron variant	C/A	snv		0.57	5
rs2575876	ABCA1			9	104903458	intron variant	G/A	snv		0.24	4
rs6065904	PLTP	1.000	0.080	20	45906012	intron variant	G/A	snv		0.23	4
rs10889353	DOCK7			1	62652525	intron variant	A/C;T	snv			3
rs12713956	APOB			2	21018633	intron variant	A/G	snv		0.14	3
rs331	LPL			8	19962894	intron variant	G/A	snv		0.30	3
rs17111684	USP24			1	55159875	intron variant	C/T	snv		3.8E-02	2
rs11075253	PDXDC1 ; NTAN1			16	15054789	intron variant	C/A	snv		0.22	1
rs115136538	ADAMTS3			4	72456848	intron variant	T/C	snv		5.7E-03	1
rs11644601	RRN3 ; PDXDC1			16	15078261	intron variant	T/C	snv		0.21	1
rs1168029	DOCK7			1	62503731	intron variant	G/A;C	snv			1
rs13247874	MLXIPL			7	73596112	intron variant	C/T	snv	0.15	0.15	1
rs17267292	GPC5 ; LOC105370315			13	92670893	intron variant	T/C	snv		0.22	1
rs35853021	ALDH1A2			15	58388444	intron variant	G/T	snv		0.38	1
rs55791371	SMARCA4	0.925	0.080	19	11077477	intron variant	A/C	snv		0.11	1