DisGeNET - a database of gene-disease associations

List of associated variants

Peptic Ulcer, C0030920

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
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
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
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
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv		0.28	105
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs763780	IL17F	0.531	0.720	6	52236941	missense variant	T/C	snv	6.7E-02	6.6E-02	87
rs2231142	ABCG2	0.583	0.680	4	88131171	missense variant	G/C;T	snv	4.0E-06; 0.12		56
rs1799964	LTA ; LOC100287329 ; TNF	0.608	0.760	6	31574531	upstream gene variant	T/C	snv		0.19	47
rs3761548	FOXP3	0.620	0.680	X	49261784	intron variant	G/A;T	snv			42
rs3804099	TLR2	0.627	0.680	4	153703504	synonymous variant	T/C	snv	0.40	0.48	40
rs121917864	TLR2	0.645	0.520	4	153704936	missense variant	C/T	snv	8.8E-05	9.8E-05	31
rs4244285	CYP2C19	0.695	0.360	10	94781859	synonymous variant	G/A;C	snv	0.18		18
rs3842787	PTGS1	0.776	0.200	9	122371228	missense variant	C/T	snv	5.9E-02	8.5E-02	11
rs3811047	IL37	0.807	0.400	2	112913833	missense variant	A/G	snv	0.71	0.60	10
rs2075820	NOD1	0.790	0.200	7	30452621	missense variant	C/T	snv	0.27	0.28	10
rs10509681	CYP2C8	0.807	0.160	10	95038992	missense variant	T/C	snv	8.3E-02	8.0E-02	8
rs11572080	CYP2C8	0.882	0.160	10	95067273	missense variant	C/A;T	snv	8.3E-02		4
rs2723176	IL37	0.851	0.200	2	112914932	intron variant	A/C;G	snv			4
rs1929992	LOC107987046 ; IL33	0.882	0.200	9	6251588	intron variant	T/C	snv		0.35	3
rs55752064	CYP2C19	1.000	0.040	10	94762755	missense variant	T/A;C	snv			1
rs773447420	PLA2G7	1.000	0.040	6	46722842	missense variant	G/A	snv	4.0E-06		1