DisGeNET - a database of gene-disease associations

List of associated variants

Sarcoidosis, C0036202

Source: ALL

Results per page

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
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
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
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
rs1799864	CCR2	0.572	0.680	3	46357717	missense variant	G/A	snv	0.13	0.12	68
rs4588	GC	0.597	0.720	4	71752606	missense variant	G/A;T	snv	1.6E-05; 0.25		53
rs1883832	CD40	0.581	0.680	20	46118343	5 prime UTR variant	T/C	snv	0.75	0.80	52
rs3775291	TLR3	0.602	0.640	4	186082920	missense variant	C/G;T	snv	1.2E-04; 0.28		51
rs1799724	LTA ; TNF	0.600	0.680	6	31574705	upstream gene variant	C/T	snv		8.5E-02	47
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs2066845	NOD2	0.611	0.600	16	50722629	missense variant	G/C;T	snv	1.1E-02; 2.2E-04		46
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	41
rs763059810	CXCR4	0.623	0.600	2	136115750	missense variant	T/C	snv	4.0E-06		41
rs5370	EDN1	0.630	0.520	6	12296022	missense variant	G/T	snv	0.23	0.21	37
rs3804100	TLR2	0.633	0.720	4	153704257	synonymous variant	T/C	snv	9.0E-02	6.7E-02	36
rs10741657	CYP2R1	0.637	0.520	11	14893332	upstream gene variant	A/G	snv		0.65	34
rs4950928	CHI3L1	0.653	0.560	1	203186754	upstream gene variant	G/A;C;T	snv			33
rs17235409	SLC11A1	0.653	0.600	2	218395009	missense variant	G/A;C	snv	4.9E-02; 4.1E-06		31
rs8192678	PPARGC1A	0.667	0.440	4	23814039	missense variant	C/T	snv	0.31	0.26	28
rs745738344	TNF	0.653	0.600	6	31576786	synonymous variant	G/A	snv	1.6E-05	1.4E-05	28
rs2004640	IRF5	0.662	0.520	7	128938247	splice donor variant	T/G	snv		0.52	26
rs6897932	IL7R	0.683	0.560	5	35874473	missense variant	C/T	snv	0.23	0.21	25