DisGeNET - a database of gene-disease associations

Source: GWASCAT ×

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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
rs187130073	AZGP1			7	99968131	missense variant	T/G	snv	5.3E-03	4.8E-03	1
rs181601681	TRIM4			7	99883210	intron variant	G/A	snv		4.7E-03	1
rs72838129	ABCC2			10	99844724	intron variant	T/C	snv		5.4E-02	1
rs989978				10	99562798	regulatory region variant	A/G	snv		0.27	2
rs1332101				10	99545585	intergenic variant	G/A	snv		0.25	2
rs12413565				10	99525359	upstream gene variant	C/A;T	snv			1
rs140429100	PDAP1			7	99397842	intron variant	G/A	snv	1.5E-02	1.6E-02	2
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		25
rs13129697	SLC2A9	0.925	0.120	4	9925343	intron variant	T/G	snv		0.39	4
rs1257415	BCL11B			14	99232594	intron variant	C/A	snv		0.41	1
rs4734427	VPS13B			8	99200353	intron variant	C/A	snv		7.8E-02	1
rs9513557				13	99108167	intergenic variant	G/A	snv		8.5E-02	1
rs113940700	TRRAP			7	98949095	intron variant	C/T	snv		1.3E-02	1
rs62472014	TRRAP			7	98919494	intron variant	C/T	snv		2.3E-02	1
rs1874344	TECPR1			7	98244682	synonymous variant	G/A	snv	0.29	0.26	1
rs7725036	LINC01846			5	98103278	intron variant	C/T	snv		0.16	1
rs11338569	ANP32B			9	98001175	intron variant	T/-;TT	delins		0.25	2
rs4743150				9	97977842	intergenic variant	C/T	snv		0.26	1
rs12146644				11	95759714	upstream gene variant	A/G	snv		0.28	2
rs35362007	GLRX5 ; SNHG10			14	95536861	intron variant	G/A	snv		0.27	3
rs7089306	SORBS1			10	95480024	intron variant	T/A;C;G	snv		0.57	1
rs2206556				6	9547364	intergenic variant	G/A;T	snv			1
rs496321	LOC101929295			11	95153468	intron variant	T/C;G	snv			3
rs12593543	LOC105370991			15	95152973	intron variant	C/T	snv		0.14	1
rs2599711	NDUFAF6			8	95059968	intron variant	T/A	snv		0.75	1