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
rs11960617	SGCD			5	156494033	intron variant	C/T	snv		1.9E-02	3
rs11999657	IFNB1			9	21078937	upstream gene variant	G/A;C	snv			3
rs12097137				1	101243889	downstream gene variant	G/A;T	snv			3
rs12242772	PTEN			10	87944637	intron variant	A/G	snv		3.0E-02	3
rs12247406	SORCS1			10	106996746	intron variant	G/A	snv		1.3E-02	3
rs12341993	ABCA1			9	104896629	intron variant	C/A;T	snv			3
rs12686004	ABCA1	1.000	0.040	9	104891145	intron variant	G/A	snv		9.1E-02	3
rs13284054	ABCA1			9	104906792	intron variant	T/C	snv		0.12	3
rs13290420	ABCA1			9	104886684	intron variant	T/C	snv		0.16	3
rs13306436	IL6			7	22731677	3 prime UTR variant	G/A	snv		7.2E-04	3
rs1540037	LOC105372112			18	49656294	TF binding site variant	A/G	snv		0.83	3
rs16942333	ACAN			15	88845033	intron variant	A/G	snv		3.3E-02	3
rs1943981	LOC105372112			18	49643445	intergenic variant	A/G;T	snv		0.74	3
rs2231555	SOCS6			18	70324020	intron variant	C/T	snv		8.3E-03	3
rs2233548	OMP ; CAPN5			11	77102945	missense variant	G/A;T	snv	2.5E-03; 1.2E-05		3
rs2254819	ABCA1			9	104904133	intron variant	T/C;G	snv			3
rs2275544	ABCA1			9	104888931	intron variant	T/C	snv		0.14	3
rs2308939	CASP9			1	15506955	missense variant	G/A;C;T	snv	3.3E-04		3
rs235216	TNFRSF1B			1	12209567	downstream gene variant	C/A;G;T	snv			3
rs2777795	ABCA1			9	104910084	intron variant	G/A	snv		8.8E-02	3
rs2819325	NOS1AP			1	162313721	intron variant	G/A;C	snv			3
rs289718	CETP			16	56976020	intron variant	C/T	snv		0.64	3
rs289719	CETP			16	56976029	intron variant	T/C	snv		0.66	3
rs2975634	NOD1			7	30452077	missense variant	C/A;T	snv	4.0E-06; 6.3E-03		3
rs35233375	ACADS			12	120739357	missense variant	G/A	snv		7.0E-06	3