DisGeNET - a database of gene-disease associations

List of associated variants

Sarcoidosis, C0036202

Source: ALL

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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
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	108
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs4950928	CHI3L1	0.653	0.560	1	203186754	upstream gene variant	G/A;C;T	snv			33
rs7517847	IL23R ; C1orf141	0.689	0.600	1	67215986	intron variant	T/G	snv		0.37	19
rs3811381	CR1	0.763	0.240	1	207616743	missense variant	C/A;G	snv	8.0E-06; 0.24		11
rs11465804	IL23R	0.752	0.320	1	67236843	intron variant	T/G	snv	4.4E-02	5.4E-02	10
rs10399931	CHI3L1	0.807	0.320	1	203186952	upstream gene variant	T/A;C	snv			6
rs12069782	C1orf141	1.000	0.040	1	67134418	intron variant	C/T	snv		0.82	2
rs1891467	TGFB2	0.925	0.040	1	218406643	intron variant	A/G	snv		0.34	2
rs763059810	CXCR4	0.623	0.600	2	136115750	missense variant	T/C	snv	4.0E-06		41
rs17235409	SLC11A1	0.653	0.600	2	218395009	missense variant	G/A;C	snv	4.9E-02; 4.1E-06		31
rs4377299		1.000	0.040	2	19741518	intergenic variant	C/T	snv			1
rs6748088	FAM117B	1.000	0.040	2	202691803	intron variant	T/C	snv		0.23	1
rs933957	SP140	1.000	0.040	2	230313189	3 prime UTR variant	T/C	snv		0.20	1
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs1799864	CCR2	0.572	0.680	3	46357717	missense variant	G/A	snv	0.13	0.12	68
rs4988453	MYD88 ; ACAA1	0.851	0.200	3	38137763	upstream gene variant	C/A;T	snv			4
rs4588	GC	0.597	0.720	4	71752606	missense variant	G/A;T	snv	1.6E-05; 0.25		53
rs3775291	TLR3	0.602	0.640	4	186082920	missense variant	C/G;T	snv	1.2E-04; 0.28		51
rs3804100	TLR2	0.633	0.720	4	153704257	synonymous variant	T/C	snv	9.0E-02	6.7E-02	36
rs8192678	PPARGC1A	0.667	0.440	4	23814039	missense variant	C/T	snv	0.31	0.26	28
rs7667298	KDR	0.827	0.120	4	55125564	5 prime UTR variant	T/C	snv		0.48	7
rs2125489	KDR	1.000	0.040	4	55087316	intron variant	G/A	snv		7.6E-02	1