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
rs9457515	C6orf99	1.000	0.080	6	158913093	intron variant	T/C;G	snv			1
rs13096142	CCR3	1.000	0.080	3	46240253	intron variant	C/T	snv		0.25	1
rs45620941	CD28	1.000	0.080	2	203735734	3 prime UTR variant	G/T	snv		0.14	1
rs77778931	ELMO1	1.000	0.080	7	37365375	intron variant	C/A;T	snv			1
rs79758729	ELMO1	1.000	0.080	7	37378851	intron variant	A/G	snv		7.9E-02	1
rs4128561	ETS1	1.000	0.080	11	128545234	intron variant	T/C	snv		0.58	1
rs6806528	FRMD4B	1.000	0.080	3	69203748	intron variant	C/T	snv		8.7E-02	1
rs58911644	GATD3A ; LOC107983952 ; LOC102725065	1.000	0.080	21	44209238	3 prime UTR variant	A/T	snv			1
rs4678523	GLB1	1.000	0.080	3	32996229	downstream gene variant	T/C	snv		0.29	1
rs2561288	IL12A-AS1	1.000	0.080	3	159957140	intron variant	T/C	snv		0.54	1
rs9873580	IL12A-AS1	1.000	0.080	3	159911578	non coding transcript exon variant	C/T	snv		9.6E-02	1
rs10800746	INAVA	1.000	0.080	1	200912264	intron variant	C/T	snv		0.32	1
rs59655222	INAVA	1.000	0.080	1	200906769	intron variant	T/C	snv		0.22	1
rs11734090	KIAA1109	1.000	0.080	4	122306958	intron variant	T/C	snv		0.25	1
rs62321692	KIAA1109	1.000	0.080	4	122340375	intron variant	A/C	snv		5.1E-02	1
rs6851362	KIAA1109	1.000	0.080	4	122342291	intron variant	T/C	snv		0.25	1
rs1018326	LINC01934	1.000	0.080	2	181143073	intron variant	T/C	snv		0.47	1
rs2387397	LINC02649	1.000	0.080	10	6348230	intron variant	G/A;C	snv			1
rs1394220	LOC105377891	1.000	0.080	6	90309585	intron variant	A/C	snv		0.34	1
rs169858	LOC105378083 ; LOC112267968	1.000	0.080	6	159063744	intron variant	T/C	snv		0.76	1
rs182429	LOC107986664 ; LOC105378083	1.000	0.080	6	159048542	intron variant	A/G	snv		0.49	1
rs3120630	LOC112267968	1.000	0.080	6	159093828	intron variant	G/A;T	snv			1
rs4686484	LPP	1.000	0.080	3	188400784	intron variant	G/A	snv		0.61	1
rs61907765	MIR6090 ; ETS1	1.000	0.080	11	128522042	5 prime UTR variant	C/G;T	snv	0.17	0.15	1
rs4445406	MMEL1	1.000	0.080	1	2607961	intron variant	T/C	snv		0.41	1