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
rs5743890	TOLLIP	0.925	0.040	11	1304599	intron variant	T/C	snv		9.7E-02	4
rs1060502990	TERT	0.925	0.040	5	1294549	frameshift variant	-/G	delins			2
rs11568819	MMP7	1.000	0.040	11	102530902	upstream gene variant	G/A	snv		5.5E-02	2
rs121917835	BMP1 ; SFTPC	0.925	0.040	8	22164010	missense variant	T/A	snv			2
rs146221660	RTEL1 ; RTEL1-TNFRSF6B	0.925	0.040	20	63693248	missense variant	G/A;T	snv	2.8E-05; 4.0E-06		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
rs1554043139	TERT	0.925	0.040	5	1294810	stop gained	C/G;T	snv			2
rs863225053	RTEL1-TNFRSF6B ; RTEL1	0.925	0.040	20	63690162	inframe deletion	ATGTCATCC/-	delins			2
rs111521887	TOLLIP	1.000	0.040	11	1291476	intron variant	C/G	snv		0.12	1
rs1555899640	RTEL1 ; RTEL1-TNFRSF6B	1.000	0.040	20	63661935	frameshift variant	TC/-	delins			1
rs1881984		1.000	0.040	3	169746671	intergenic variant	A/G	snv		0.30	1
rs28673968	LOC105377329	1.000	0.040	4	89655739	intron variant	T/C	snv		0.37	1
rs5743894	LOC105376512 ; TOLLIP	1.000	0.040	11	1303542	intron variant	T/A;C	snv			1
rs62025270	LOC101929679	1.000	0.040	15	85756967	upstream gene variant	G/A	snv		0.17	1
rs73606754	TTYH1	1.000	0.040	19	54420809	splice region variant	C/G;T	snv			1
rs748223349	RTEL1-TNFRSF6B ; RTEL1	1.000	0.040	20	63688001	missense variant	G/A;C	snv	1.6E-05		1
rs776525427	RTEL1-TNFRSF6B ; TNFRSF6B ; RTEL1	1.000	0.040	20	63695387	stop gained	C/G;T	snv	1.0E-05	7.0E-06	1
rs863225130	RTEL1-TNFRSF6B ; RTEL1	1.000	0.040	20	63688161	missense variant	T/G	snv			1
rs869312855	RTEL1-TNFRSF6B ; RTEL1	1.000	0.040	20	63678184	splice donor variant	-/T	delins			1
rs121917834	SFTPC	0.790	0.080	8	22163096	missense variant	T/A;C	snv	3.6E-05		10
rs121917737	SFTPA2	0.827	0.080	10	79557264	missense variant	C/A	snv			5
rs121917738	SFTPA2	0.827	0.080	10	79557363	missense variant	A/G	snv			5
rs2076295	DSP	0.882	0.080	6	7562999	intron variant	T/G	snv		0.46	5
rs12602273	TP53	0.851	0.080	17	7679695	intron variant	C/G	snv		0.15	4