DisGeNET - a database of gene-disease associations

List of associated variants

Celiac Disease, C0007570

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
rs6032606	ZNF335	1.000	0.080	20	45967568	missense variant	C/A;G	snv	0.84		1
rs1250563	ZMIZ1	0.724	0.240	10	79287626	intron variant	G/C	snv		0.24	14
rs1250552	ZMIZ1	0.882	0.200	10	79298270	intron variant	A/C;G	snv			5
rs1250557	ZMIZ1	1.000	0.080	10	79306017	intron variant	G/T	snv		0.63	1
rs11851414	ZFP36L1	1.000	0.080	14	68792785	intron variant	T/C	snv		0.25	1
rs2298428	YDJC	0.807	0.240	22	21628603	missense variant	C/T	snv	0.27	0.18	9
rs6441961	UQCRC2P1	1.000	0.080	3	46310893	non coding transcript exon variant	T/C	snv		0.74	1
rs936229	ULK3	1.000	0.080	15	74839978	intron variant	A/G	snv		0.67	2
rs1893592	UBASH3A	0.742	0.280	21	42434957	missense variant	A/C;G	snv	0.27; 8.0E-06		12
rs4246905	TNFSF15	0.716	0.400	9	114790969	missense variant	T/A;C	snv	0.76		16
rs11552708	TNFSF12-TNFSF13 ; TNFSF13	0.882	0.240	17	7559238	missense variant	G/A;C	snv	0.13; 4.2E-06		5
rs1800693	TNFRSF1A	0.776	0.360	12	6330843	non coding transcript exon variant	T/C	snv	0.36; 4.0E-06	0.38	9
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs855791	TMPRSS6	0.701	0.400	22	37066896	missense variant	A/G;T	snv	0.57; 4.0E-06		38
rs1161457931	TMPRSS6	0.763	0.200	22	37084836	missense variant	C/T	snv	6.4E-06		9
rs1208663703	TMPRSS6	0.763	0.200	22	37086414	missense variant	T/C	snv	5.2E-06	7.0E-06	9
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
rs10484718	THEMIS	1.000	0.080	6	127859906	intron variant	A/T	snv		8.6E-02	1
rs4897233	THEMIS	1.000	0.080	6	127835743	intron variant	A/G	snv		0.38	1
rs1801198	TCN2	0.677	0.400	22	30615623	missense variant	G/A;C	snv	5.6E-05; 0.57		26
rs1689510	SUOX	0.724	0.240	12	56002984	non coding transcript exon variant	G/C	snv		0.25	16
rs6749371	STAT4	0.925	0.200	2	191037458	intron variant	A/T	snv		7.3E-02	2
rs13401064	STAT4	1.000	0.080	2	191105604	intron variant	C/G	snv		8.5E-02	1
rs6715106	STAT4	1.000	0.080	2	191048308	intron variant	A/G	snv		6.1E-02	1