DisGeNET - a database of gene-disease associations

List of associated variants

Irritable Bowel Syndrome, C0022104

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
rs4722999	CRHR2	0.851	0.080	7	30654159	intron variant	C/T	snv		0.67	5
rs3779250	CRHR2	0.925	0.080	7	30654644	intron variant	C/T	snv		0.48	2
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs3129891		0.851	0.160	6	32447303	downstream gene variant	G/A	snv		0.20	5
rs224222	MEFV	0.724	0.440	16	3254463	missense variant	C/T	snv	0.24	0.21	15
rs77005575		1.000	0.040	6	32611931	intergenic variant	T/C	snv			2
rs41311127	SCN5A	0.925	0.120	3	38562500	missense variant	A/G	snv	6.5E-04	4.7E-04	2
rs137854608	SCN5A	0.925	0.120	3	38609776	missense variant	C/T	snv	2.4E-05	3.5E-05	2
rs199473072	SCN5A	0.827	0.160	3	38613773	missense variant	G/A	snv	1.2E-05	8.4E-05	5
rs7209436	LINC02210-CRHR1 ; CRHR1	0.851	0.200	17	45792776	intron variant	C/T	snv		0.43	5
rs242924	LINC02210-CRHR1 ; MAPT-AS1 ; CRHR1	0.882	0.080	17	45808001	intron variant	G/T	snv		0.44	3
rs324420	FAAH	0.637	0.440	1	46405089	missense variant	C/A	snv	0.24	0.26	48
rs6313	HTR2A	0.562	0.640	13	46895805	synonymous variant	G/A	snv	0.41	0.40	82
rs116855232	NUDT15	0.742	0.400	13	48045719	missense variant	C/T	snv	2.8E-02	1.1E-02	12
rs1384936174	NOD2	0.827	0.040	16	50710812	missense variant	G/A;T	snv	4.0E-06; 4.0E-06		6
rs5743836	TLR9	0.658	0.440	3	52226766	intron variant	A/G	snv		0.20	31
rs62636489	MIR9898 ; KRT8	0.925	0.040	12	52898860	missense variant	G/A	snv	7.6E-05	7.0E-06	3
rs2104286	IL2RA	0.662	0.440	10	6057082	intron variant	T/C	snv		0.18	25
rs11465804	IL23R	0.752	0.320	1	67236843	intron variant	T/G	snv	4.4E-02	5.4E-02	10
rs1861494	IFNG-AS1 ; IFNG	0.716	0.400	12	68157629	intron variant	C/T	snv		0.75	15
rs5443	CDCA3 ; GNB3	0.532	0.760	12	6845711	synonymous variant	C/T	snv	0.36	0.44	106
rs10474485	CRHBP	1.000	0.040	5	76975028	intron variant	C/A	snv		0.26	2
rs1248696	DLG5	0.807	0.080	10	77856847	missense variant	T/A;C	snv	0.93		8
rs2349775	NXPH1	0.851	0.120	7	8678450	intron variant	G/A;C	snv			6
rs806378	CNR1	1.000	0.040	6	88149832	intron variant	C/T	snv		0.21	2