DisGeNET - a database of gene-disease associations

List of shared variants

Crohn Disease, C0010346

Disease: Celiac Disease

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
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
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
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv		0.28	105
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs187238	IL18	0.602	0.680	11	112164265	intron variant	C/A;G	snv			48
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs1946518	IL18	0.602	0.760	11	112164735	intron variant	T/G	snv		0.60	46
rs3743930	MEFV	0.611	0.720	16	3254626	missense variant	C/G;T	snv	7.1E-02		43
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	41
rs1799969	ICAM1	0.637	0.560	19	10284116	missense variant	G/A	snv	0.11	9.3E-02	38
rs2043211	CARD8	0.653	0.480	19	48234449	missense variant	A/T	snv	0.33	0.29	29
rs1801198	TCN2	0.677	0.400	22	30615623	missense variant	G/A;C	snv	5.6E-05; 0.57		26
rs6679677	PHTF1	0.653	0.320	1	113761186	upstream gene variant	C/A	snv		6.7E-02	26
rs35829419	NLRP3	0.689	0.560	1	247425556	missense variant	C/A	snv	3.9E-02	3.3E-02	23
rs10754558	NLRP3	0.695	0.480	1	247448734	3 prime UTR variant	G/C;T	snv			20
rs6822844		0.689	0.520	4	122588266	regulatory region variant	G/T	snv		0.10	20
rs917997		0.701	0.480	2	102454108	downstream gene variant	T/A;C	snv			20
rs35761398	CNR2	0.701	0.520	1	23875429	missense variant	TT/CC	mnv			19
rs601338	FUT2 ; LOC105447645	0.742	0.280	19	48703417	stop gained	G/A	snv	0.38	0.45	19
rs706778	IL2RA	0.695	0.320	10	6056986	intron variant	C/T	snv		0.46	19
rs72928038	BACH2	0.695	0.360	6	90267049	intron variant	G/A	snv		0.11	19