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
rs2228145	IL6R	0.602	0.720	1	154454494	missense variant	A/C;T	snv	0.38; 1.2E-05		57
rs8192284	IL6R	0.724	0.720	1	154454494	missense variant	A/C;T	snv			19
rs4129267	IL6R	0.807	0.200	1	154453788	intron variant	C/G;T	snv			13
rs4537545	IL6R	0.790	0.160	1	154446403	intron variant	C/T	snv		0.48	11
rs12239046	NLRP3			1	247438293	intron variant	T/C	snv		0.58	9
rs7529229	IL6R	0.851	0.120	1	154448302	intron variant	T/C	snv		0.48	8
rs1892534	LEPR	0.925	0.120	1	65640261	3 prime UTR variant	C/T	snv		0.44	7
rs1539019	NLRP3	0.882	0.240	1	247436999	intron variant	A/C	snv		0.63	6
rs11102001	GSTM5 ; EPS8L3	0.925	0.080	1	109757069	missense variant	G/A	snv	9.4E-02	0.16	4
rs61812598	IL6R	1.000	0.080	1	154447611	intron variant	G/A	snv		0.31	4
rs7518199	IL6R			1	154434943	intron variant	A/C;T	snv	0.39; 4.2E-06		4
rs10157379	NLRP3			1	247442297	intron variant	C/G;T	snv			3
rs10489615	GALNT2			1	230169242	intron variant	A/C;G	snv			3
rs1938492				1	65652146	intergenic variant	A/C	snv		0.43	3
rs4925659	NLRP3			1	247440161	intron variant	G/A	snv		0.33	3
rs10864726	GALNT2			1	230160406	intron variant	C/T	snv		0.45	1
rs2376015				1	65658091	intergenic variant	A/G	snv		0.43	1
rs4655582				1	65687680	regulatory region variant	C/G	snv		0.34	1
rs1047891	CPS1	0.827	0.200	2	210675783	missense variant	C/A	snv	0.30	0.33	34
rs715	CPS1	1.000	0.040	2	210678331	3 prime UTR variant	T/C	snv		0.28	13
rs6734238		1.000	0.080	2	113083453	upstream gene variant	A/G	snv		0.39	8
rs7422339	CPS1	1.000	0.080	2	210675783	missense variant	C/A	snv			5
rs12712127	IL1R1			2	102110201	intron variant	A/G	snv		0.62	3
rs1476698	FARP2			2	241357034	intron variant	A/G;T	snv			3
rs7588285	COLEC11			2	3600596	intron variant	C/G;T	snv			3