DisGeNET - a database of gene-disease associations

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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
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs1143627	IL1B	0.605	0.760	2	112836810	5 prime UTR variant	G/A	snv		0.56	47
rs1143623	IL1B	0.677	0.440	2	112838252	upstream gene variant	C/G	snv		0.24	29
rs1143633	IL1B	0.752	0.280	2	112832890	intron variant	C/G;T	snv			11
rs1143643	IL1B	0.790	0.320	2	112830725	intron variant	C/T	snv		0.29	10
rs549858786	IL1B	0.790	0.320	2	112836807	5 prime UTR variant	T/A	snv			10
rs1143630	IL1B	0.827	0.160	2	112834078	intron variant	T/A;G	snv			5
rs3136558	IL1B	1.000		2	112833698	intron variant	A/G	snv		0.21	4
rs3917356	IL1B	0.882	0.160	2	112834786	intron variant	C/T	snv		0.39	4
rs1043973338	IL1B	0.882	0.080	2	112830483	missense variant	A/C	snv			3
rs1143629	IL1B	0.882	0.160	2	112835941	intron variant	G/A	snv		0.60	3
rs2853550	IL1B	0.882	0.120	2	112829544	downstream gene variant	A/G	snv		0.83	3
rs1143639	IL1B	1.000	0.120	2	112831216	non coding transcript exon variant	C/T	snv		0.20	2
rs1445888481	IL1B	0.925	0.080	2	112835572	synonymous variant	C/T	snv		7.0E-06	2
rs3087258	IL1B	0.925	0.080	2	112837294	upstream gene variant	G/A	snv			2
rs772717932	IL1B	1.000	0.040	2	112830530	missense variant	C/A;T	snv	4.0E-06; 1.6E-05		2
rs1143642	IL1B			2	112830976	intron variant	A/G	snv		0.89	1
rs376289593	IL1B	1.000	0.080	2	112836202	missense variant	C/T	snv	1.2E-04	4.9E-05	1
rs538083388	IL1B	1.000	0.080	2	112833516	synonymous variant	G/A	snv	2.2E-04	7.0E-05	1
rs762704392	IL1B	1.000	0.080	2	112836208	missense variant	C/T	snv	2.4E-05	2.1E-05	1
rs868749744	IL1B	1.000	0.120	2	112833417	synonymous variant	C/T	snv			1