DisGeNET - a database of gene-disease associations

List of associated variants

Colitis, C0009319

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
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs187238	IL18	0.602	0.680	11	112164265	intron variant	C/A;G	snv			48
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs121918338	CARD9	0.807	0.160	9	136370362	stop gained	G/A	snv	1.2E-05	7.0E-06	7
rs199840952	ZAP70	0.827	0.240	2	97732893	missense variant	C/T	snv	1.2E-05	7.0E-06	7
rs869025224	ZAP70	0.827	0.240	2	97734709	missense variant	G/C	snv		7.0E-06	7
rs17388568	ADAD1	0.827	0.280	4	122408207	intron variant	G/A	snv		0.20	6
rs1567629968	CARMIL2	0.882	0.160	16	67648973	missense variant	C/A	snv			3
rs28362459	FUT3	0.925	0.040	19	5844781	missense variant	A/C;G;T	snv	0.18; 1.2E-05		3
rs3745635	FUT3	0.882	0.040	19	5844332	missense variant	C/T	snv	8.5E-02	0.11	3
rs587777641	GPIHBP1	0.925	0.040	8	143215294	missense variant	A/C	snv			3
rs587777642	GPIHBP1	0.925	0.040	8	143215376	frameshift variant	ACCCTGGCAAAGCTCCC/-	delins			3
rs149491038	IL10RA	0.882	0.040	11	117995684	missense variant	C/T	snv	8.0E-06	2.8E-05	3
rs1454037218	CARD9	0.925	0.120	9	136371975	missense variant	C/T	snv			2
rs748770316	TNIP2	1.000	0.040	4	2744488	missense variant	C/T	snv	4.0E-06		1