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
rs635634		0.882	0.160	9	133279427	upstream gene variant	T/A;C	snv			7
rs6589566	ZPR1	0.882	0.080	11	116781707	intron variant	G/A;C;T	snv			7
rs676210	APOB	0.925	0.120	2	21008652	missense variant	G/A;T	snv	0.29		7
rs693	APOB	0.708	0.440	2	21009323	synonymous variant	G/A	snv	0.39	0.38	7
rs7528419	CELSR2	0.851	0.080	1	109274570	3 prime UTR variant	A/G	snv		0.23	7
rs11668477		0.925	0.080	19	11084354	downstream gene variant	A/G	snv		0.34	6
rs2228671	LDLR	0.790	0.160	19	11100236	stop gained	C/A;G;T	snv	1.6E-05; 8.9E-02		6
rs583104				1	109278685	downstream gene variant	G/T	snv		0.63	6
rs10199768	APOB			2	21021128	intron variant	G/T	snv		0.35	5
rs10789117	DOCK7 ; ANGPTL3			1	62606594	intron variant	A/C;T	snv			5
rs11207997	DOCK7 ; ANGPTL3			1	62596235	intron variant	C/T	snv		0.39	5
rs1167998	DOCK7			1	62465961	intron variant	C/A	snv		0.57	5
rs12654264	HMGCR	0.925	0.120	5	75352778	intron variant	A/T	snv		0.38	5
rs1748197	DOCK7			1	62590441	intron variant	G/A	snv		0.42	5
rs2131925	DOCK7			1	62560271	intron variant	G/T	snv		0.57	5
rs660240	CELSR2			1	109275216	3 prime UTR variant	T/C	snv		0.75	5
rs1041968	APOB			2	21009932	synonymous variant	G/A	snv	0.39	0.38	4
rs1277930	PSRC1			1	109279521	downstream gene variant	G/A	snv		0.63	4
rs17248720	LDLR			19	11087511	upstream gene variant	C/T	snv		0.16	4
rs174541	FADS2	1.000	0.080	11	61798436	intron variant	T/C	snv		0.29	4
rs2000999	HPR ; TXNL4B	1.000	0.080	16	72074194	intron variant	G/A	snv		0.16	4
rs2738446	LDLR			19	11116650	intron variant	C/A;G	snv		0.34	4