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
rs1801275	IL4R	0.581	0.680	16	27363079	missense variant	A/G	snv	0.25	0.36	58
rs1805015	IL4R	0.683	0.520	16	27362859	missense variant	T/C	snv	0.16	0.22	22
rs555743307	IL4R	0.695	0.440	16	27342243	missense variant	G/A;T	snv	3.6E-05; 2.9E-04		20
rs1805010	IL4R	0.752	0.400	16	27344882	missense variant	A/C;G;T	snv	0.45		12
rs1805011	IL4R	0.776	0.320	16	27362551	missense variant	A/C;G;T	snv	0.13; 1.2E-04; 3.6E-05		8
rs3785356	IL4R	0.925	0.080	16	27337847	intron variant	C/T	snv		0.25	5
rs769790595	IL4R	0.827	0.120	16	27360785	missense variant	G/A;C	snv	2.0E-05; 4.0E-06		5
rs1805014	IL4R	0.851	0.080	16	27363708	missense variant	T/C	snv	7.4E-03	1.4E-02	4
rs1805013	IL4R	0.925	0.120	16	27362659	missense variant	C/T	snv	3.6E-02	3.6E-02	2
rs3024655	IL4R	0.925	0.080	16	27358181	intron variant	A/G;T	snv			2
rs748245223	IL4R	0.925	0.080	16	27363275	synonymous variant	C/T	snv	4.1E-06		2
rs757568489	IL4R	0.925	0.080	16	27362545	missense variant	G/A	snv	4.0E-06		2
rs1233029565	IL4R	1.000	0.080	16	27360786	synonymous variant	G/A	snv	4.0E-06		1
rs145986476	IL4R	1.000	0.080	16	27348194	intron variant	C/A	snv		5.3E-03	1
rs2234900	IL4R	1.000	0.080	16	27362651	synonymous variant	T/C	snv	0.14	0.26	1
rs3024622	IL4R	1.000	0.080	16	27354132	non coding transcript exon variant	C/A;G;T	snv			1
rs758655910	IL4R	1.000	0.080	16	27362717	synonymous variant	G/A	snv	4.0E-06	7.0E-06	1
rs764099093	IL4R	1.000	0.080	16	27344897	missense variant	G/A	snv	2.0E-05		1
rs775147602	IL4R	1.000	0.080	16	27358954	missense variant	C/G;T	snv	8.0E-06		1
rs8832	IL4R	1.000	0.080	16	27364466	3 prime UTR variant	A/G	snv		0.46	1