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
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv		0.46	64
rs11568818	MMP7	0.763	0.280	11	102530930	upstream gene variant	T/A;C	snv			15
rs868903	MUC5B	0.882	0.120	11	1221460	upstream gene variant	T/C	snv		0.47	4
rs11568819	MMP7	1.000	0.040	11	102530902	upstream gene variant	G/A	snv		5.5E-02	2
rs62025270	LOC101929679	1.000	0.040	15	85756967	upstream gene variant	G/A	snv		0.17	1
rs863225053	RTEL1-TNFRSF6B ; RTEL1	0.925	0.040	20	63690162	inframe deletion	ATGTCATCC/-	delins			2
rs35705950		0.763	0.240	11	1219991	splice region variant	G/A;T	snv			14
rs73606754	TTYH1	1.000	0.040	19	54420809	splice region variant	C/G;T	snv			1
rs863225129	RTEL1-TNFRSF6B ; RTEL1	0.925	0.160	20	63687936	splice acceptor variant	G/A	snv			2
rs1060502990	TERT	0.925	0.040	5	1294549	frameshift variant	-/G	delins			2
rs1554038257	TERT	0.925	0.040	5	1255333	frameshift variant	GA/-	delins			2
rs1554042899	TERT	0.925	0.040	5	1293837	frameshift variant	AG/-	delins			2
rs1555899640	RTEL1 ; RTEL1-TNFRSF6B	1.000	0.040	20	63661935	frameshift variant	TC/-	delins			1
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs2004640	IRF5	0.662	0.520	7	128938247	splice donor variant	T/G	snv		0.52	26
rs776744306	RTEL1-TNFRSF6B ; RTEL1	0.882	0.160	20	63690442	splice donor variant	G/A;C	snv	4.5E-06		3
rs869312855	RTEL1-TNFRSF6B ; RTEL1	1.000	0.040	20	63678184	splice donor variant	-/T	delins			1
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
rs2395655	CDKN1A ; DINOL	0.882	0.120	6	36677919	5 prime UTR variant	A/G	snv	0.43	0.49	5
rs3750920	TOLLIP	0.807	0.120	11	1288726	synonymous variant	C/T	snv	0.40	0.38	7
rs1061581	HSPA1A ; HSPA1L	0.827	0.200	6	31816809	synonymous variant	G/A	snv			6
rs1800925	IL13 ; TH2LCRR	0.627	0.560	5	132657117	non coding transcript exon variant	C/G;T	snv			37
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
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82