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
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
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
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
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	108
rs751377893	F5	0.574	0.680	1	169546513	missense variant	T/C	snv	4.0E-06		65
rs2228145	IL6R	0.602	0.720	1	154454494	missense variant	A/C;T	snv	0.38; 1.2E-05		57
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs1801274	FCGR2A	0.597	0.800	1	161509955	missense variant	A/C;G	snv	4.0E-06; 0.48		46
rs6025	F5	0.637	0.560	1	169549811	missense variant	C/T	snv		1.8E-02	43
rs61816761	FLG ; FLG-AS1	0.658	0.640	1	152313385	stop gained	G/A;T	snv	9.4E-03; 8.0E-06		43
rs10889677	IL23R	0.627	0.720	1	67259437	3 prime UTR variant	C/A	snv		0.27	40
rs34612342	MUTYH	0.653	0.400	1	45332803	missense variant	T/C	snv	1.5E-03	1.6E-03	32
rs36053993	MUTYH	0.677	0.280	1	45331556	missense variant	C/T	snv	3.0E-03	3.3E-03	31
rs10754558	NLRP3	0.695	0.480	1	247448734	3 prime UTR variant	G/C;T	snv			20
rs35761398	CNR2	0.701	0.520	1	23875429	missense variant	TT/CC	mnv			19
rs7517847	IL23R ; C1orf141	0.689	0.600	1	67215986	intron variant	T/G	snv		0.37	19
rs2501432	CNR2	0.716	0.480	1	23875430	missense variant	T/C;G	snv	0.62		16
rs879761216	CNR2	0.732	0.480	1	23875429	frameshift variant	TT/C;T	delins			14
rs5744174	TLR5	0.742	0.360	1	223111186	missense variant	A/G	snv	0.39	0.34	13
rs7530511	IL23R ; C1orf141	0.742	0.400	1	67219704	missense variant	T/A;C	snv	0.88		12
rs3024505		0.790	0.320	1	206766559	upstream gene variant	G/A	snv		0.11	10
rs4845604	RORC	0.776	0.200	1	151829204	intron variant	G/A;C;T	snv			10