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
rs2179070	TRAF3IP2-AS1 ; TRAF3IP2			6	111564549	intron variant	T/C;G	snv			1
rs36221701	SMAD3 ; LOC102723493			15	67064151	non coding transcript exon variant	T/C;G	snv			1
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113
rs763780	IL17F	0.531	0.720	6	52236941	missense variant	T/C	snv	6.7E-02	6.6E-02	87
rs751377893	F5	0.574	0.680	1	169546513	missense variant	T/C	snv	4.0E-06		65
rs3804099	TLR2	0.627	0.680	4	153703504	synonymous variant	T/C	snv	0.40	0.48	40
rs34612342	MUTYH	0.653	0.400	1	45332803	missense variant	T/C	snv	1.5E-03	1.6E-03	32
rs352139	TLR9	0.732	0.320	3	52224356	intron variant	T/C	snv	0.51	0.54	18
rs2695121	NR1H2	0.716	0.280	19	50377484	5 prime UTR variant	T/C	snv		0.70	16
rs2227564	PLAU ; C10orf55	0.763	0.320	10	73913343	missense variant	T/C	snv	0.75	0.81	15
rs13361189		0.752	0.240	5	150843825	upstream gene variant	T/C	snv		0.21	13
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
rs11168249	HDAC7	0.807	0.120	12	47814585	intron variant	T/C	snv		0.50	9
rs12343867	INSL6 ; JAK2	0.790	0.200	9	5074189	intron variant	T/C	snv		0.25	9
rs26528	IL27	0.807	0.200	16	28506388	intron variant	T/C	snv		0.43	9
rs1182188	GNA12	0.827	0.120	7	2830351	intron variant	T/C	snv		0.26	8
rs6651252	LINC00824	0.790	0.200	8	128554935	intron variant	T/C	snv		0.19	8
rs10499563	STEAP1B	0.807	0.120	7	22720869	intron variant	T/C	snv		0.21	7
rs17085007		0.827	0.120	13	26957130	regulatory region variant	T/C	snv		0.16	7
rs11190140	NKX2-3 ; LINC01475	0.827	0.160	10	99531836	upstream gene variant	T/C	snv		0.55	6
rs16967103		0.827	0.120	15	38606989	intergenic variant	T/C	snv		0.22	6
rs1816702	TLR2	0.827	0.120	4	153688371	non coding transcript exon variant	T/C	snv		0.79	6
rs2071303	LOC108783645 ; HFE	0.882	0.120	6	26091108	splice region variant	T/C	snv	0.38	0.36	6
rs2143178		0.827	0.120	22	39264824	intron variant	T/C	snv		0.19	6