DisGeNET - a database of gene-disease associations

List of associated variants

Idiopathic Pulmonary Fibrosis, C1800706

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
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv		0.46	64
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	59
rs3775291	TLR3	0.602	0.640	4	186082920	missense variant	C/G;T	snv	1.2E-04; 0.28		51
rs1800925	IL13 ; TH2LCRR	0.627	0.560	5	132657117	non coding transcript exon variant	C/G;T	snv			37
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
rs2853676	TERT	0.667	0.560	5	1288432	intron variant	T/A;C	snv			29
rs2004640	IRF5	0.662	0.520	7	128938247	splice donor variant	T/G	snv		0.52	26
rs113993959	CFTR	0.677	0.280	7	117587778	stop gained	G/A;T	snv	8.0E-06; 3.4E-04		25
rs2227306	CXCL8	0.677	0.680	4	73741338	intron variant	C/T	snv		0.31	21
rs5029939	TNFAIP3	0.701	0.440	6	137874586	intron variant	C/G	snv		0.13	19
rs74597325	CFTR	0.708	0.320	7	117587811	stop gained	C/G;T	snv	6.8E-05		18
rs11568818	MMP7	0.763	0.280	11	102530930	upstream gene variant	T/A;C	snv			15
rs35705950		0.763	0.240	11	1219991	splice region variant	G/A;T	snv			14
rs2227956	HSPA1L	0.752	0.400	6	31810495	missense variant	G/A;C;T	snv	0.87		12
rs1043618	HSPA1L ; HSPA1A	0.752	0.280	6	31815730	5 prime UTR variant	G/A;C;T	snv	0.39; 2.0E-05; 4.0E-06		10
rs121917834	SFTPC	0.790	0.080	8	22163096	missense variant	T/A;C	snv	3.6E-05		10
rs2075800	HSPA1L	0.776	0.440	6	31810169	missense variant	C/T	snv	0.32	0.25	8
rs3750920	TOLLIP	0.807	0.120	11	1288726	synonymous variant	C/T	snv	0.40	0.38	7
rs2227307	CXCL8	0.851	0.240	4	73740952	intron variant	T/G	snv		0.45	6
rs1061581	HSPA1A ; HSPA1L	0.827	0.200	6	31816809	synonymous variant	G/A	snv			6
rs8182352		0.827	0.160	17	5651667	intergenic variant	T/C	snv		0.44	5