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
rs35761398	CNR2	0.701	0.520	1	23875429	missense variant	TT/CC	mnv			19
rs71559680		0.827	0.120	6	21430497	intergenic variant	TAG/CAT	mnv			6
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs879761216	CNR2	0.732	0.480	1	23875429	frameshift variant	TT/C;T	delins			14
rs5743293	NOD2	0.807	0.200	16	50729868	frameshift variant	C/-;CC	delins			7
rs1333407770	DLG5	0.925	0.040	10	77811115	frameshift variant	G/-;GG	delins			3
rs75900472		0.925	0.040	9	4981601	upstream gene variant	CC/A;C	delins		4.6E-02	3
rs144344067	FAM171B	1.000	0.040	2	186711652	intron variant	T/-;TT	delins			2
rs12720460	NOS2			17	27801261	intron variant	ATTT/-;ATTTATTT;ATTTATTTATTT	delins			1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
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
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113