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
rs12545733	LOC254896			8	23099490	intron variant	T/A;C	snv			2
rs12820863				12	4209557	intergenic variant	C/T	snv		0.27	2
rs12935413	CLEC16A	1.000	0.080	16	11116590	intron variant	G/A	snv		0.34	2
rs12968338	SERPINB13			18	63584740	upstream gene variant	C/G;T	snv			2
rs13007211	VAMP8			2	85573959	intron variant	A/T	snv		0.31	2
rs13056815	LIMK2			22	31272264	intron variant	G/A;C	snv			2
rs13070844				3	12233786	intergenic variant	G/A	snv		0.25	2
rs13223928				7	3131386	intergenic variant	T/C	snv		0.51	2
rs13315649	RPN1			3	128672379	intron variant	T/A	snv		0.24	2
rs140948517	RHBDD2			7	75857462	intron variant	TT/-;T;TTT;TTTT;TTTTTTTTTTTT	delins			2
rs143215670	LOC107987046			9	6264551	intergenic variant	G/C	snv		2.0E-03	2
rs147453535	CEBPE			14	23117837	intron variant	A/C	snv	6.3E-03	6.2E-03	2
rs149206763	LOC105371498			17	4618946	downstream gene variant	G/A;C	snv			2
rs150640087	IKZF1			7	50376454	intron variant	G/T	snv		1.0E-02	2
rs1586068	IKZF2			2	213033508	intron variant	A/G	snv		0.81	2
rs17484848	BCL2L11 ; MIR4435-2HG			2	111142983	intron variant	T/C	snv		7.2E-02	2
rs1754541	LOC101928334			1	101160327	intergenic variant	A/G	snv		0.25	2
rs17548938	GRB10			7	50739728	intron variant	G/A	snv		8.3E-02	2
rs175705				14	75509305	intergenic variant	C/A;G;T	snv			2
rs17585295	BACH2			6	90235112	intron variant	C/T	snv		0.27	2
rs185120612	FNIP1			5	131759984	intron variant	G/A	snv		9.4E-04	2
rs186675820	P4HA2			5	132223763	intron variant	T/C	snv		5.1E-03	2
rs1912580				10	8995019	intergenic variant	G/C	snv		0.16	2
rs1961220	LOC105374724			5	35844023	intergenic variant	G/A	snv		0.28	2
rs2010672	CRTC3-AS1			15	90658042	intron variant	G/C;T	snv			2