DisGeNET - a database of gene-disease associations

List of associated variants

Inflammatory Bowel Diseases, C0021390

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
rs1800460	TPMT	0.807	0.320	6	18138997	missense variant	C/T	snv	2.8E-02	2.6E-02	7
rs1800462	TPMT	0.851	0.240	6	18143724	missense variant	C/G	snv	1.7E-03	2.0E-03	5
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs4246905	TNFSF15	0.716	0.400	9	114790969	missense variant	T/A;C	snv	0.76		16
rs7848647	TNFSF15	0.732	0.320	9	114806766	upstream gene variant	T/C	snv		0.74	13
rs3810936	TNFSF15	0.742	0.320	9	114790605	synonymous variant	T/C	snv	0.71	0.75	12
rs6478109	TNFSF15	0.752	0.320	9	114806486	upstream gene variant	A/G	snv		0.74	12
rs6478108	TNFSF15	0.763	0.200	9	114796423	intron variant	C/T	snv		0.73	10
rs10114470	TNFSF15	0.882	0.080	9	114785492	3 prime UTR variant	T/A;C	snv			4
rs6062496	TNFRSF6B ; RTEL1-TNFRSF6B	0.827	0.120	20	63697746	intron variant	G/A	snv		0.52	6
rs4149570	TNFRSF1A	0.752	0.360	12	6342424	upstream gene variant	A/C;G;T	snv			11
rs5029941	TNFAIP3	1.000	0.080	6	137874923	missense variant	C/T	snv	1.2E-03	5.6E-03	2
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs6142618	TM9SF4			20	32137845	intron variant	A/G	snv		0.69	1
rs352140	TLR9	0.630	0.680	3	52222681	synonymous variant	C/A;G;T	snv	2.0E-05; 0.49		42
rs5743836	TLR9	0.658	0.440	3	52226766	intron variant	A/G	snv		0.20	31
rs352139	TLR9	0.732	0.320	3	52224356	intron variant	T/C	snv	0.51	0.54	18
rs5743810	TLR6 ; TLR1	0.689	0.360	4	38828729	missense variant	A/G	snv	0.73	0.72	21
rs5744174	TLR5	0.742	0.360	1	223111186	missense variant	A/G	snv	0.39	0.34	13
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs5030728	TLR4	0.807	0.160	9	117712004	intron variant	G/A;T	snv		0.23	7
rs200829864	TLR4			9	117704494	missense variant	G/A;T	snv		2.1E-05	1
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs3804099	TLR2	0.627	0.680	4	153703504	synonymous variant	T/C	snv	0.40	0.48	40