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
rs2395655	CDKN1A ; DINOL	0.882	0.120	6	36677919	5 prime UTR variant	A/G	snv	0.43	0.49	5
rs2076295	DSP	0.882	0.080	6	7562999	intron variant	T/G	snv		0.46	5
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
rs199422294	TERT	0.827	0.160	5	1280216	missense variant	C/T	snv			5
rs628977	ADAM33	0.851	0.160	20	3669074	intron variant	T/C	snv		0.65	4
rs17690703	MAPT-AS1	0.882	0.160	17	45847931	intron variant	C/T	snv		0.18	4
rs868903	MUC5B	0.882	0.120	11	1221460	upstream gene variant	T/C	snv		0.47	4
rs201540674	RTEL1-TNFRSF6B ; TNFRSF6B ; RTEL1	0.851	0.160	20	63695619	missense variant	G/A	snv	1.6E-04	7.7E-05	4
rs398123017	RTEL1 ; RTEL1-TNFRSF6B	0.851	0.160	20	63693211	stop gained	C/A;G;T	snv	4.0E-06; 3.2E-05		4
rs397728201	SFTPA1	0.925	0.160	10	79614033	stop gained	C/A;T	snv	3.6E-05; 4.0E-06		4
rs5743890	TOLLIP	0.925	0.040	11	1304599	intron variant	T/C	snv		9.7E-02	4
rs12602273	TP53	0.851	0.080	17	7679695	intron variant	C/G	snv		0.15	4
rs733590	CDKN1A ; DINOL	0.882	0.120	6	36677426	intron variant	T/C	snv		0.41	3
rs776744306	RTEL1-TNFRSF6B ; RTEL1	0.882	0.160	20	63690442	splice donor variant	G/A;C	snv	4.5E-06		3
rs121918666	TERT	0.882	0.160	5	1266524	missense variant	C/T	snv	8.2E-06	7.0E-06	3
rs2305619	VEPH1 ; PTX3	0.882	0.240	3	157437072	intron variant	A/G	snv	0.55	0.50	3
rs121917835	BMP1 ; SFTPC	0.925	0.040	8	22164010	missense variant	T/A	snv			2
rs2744371	DSP	0.925	0.080	6	7553941	intron variant	A/C;G	snv			2
rs11568819	MMP7	1.000	0.040	11	102530902	upstream gene variant	G/A	snv		5.5E-02	2
rs863225053	RTEL1-TNFRSF6B ; RTEL1	0.925	0.040	20	63690162	inframe deletion	ATGTCATCC/-	delins			2
rs863225129	RTEL1-TNFRSF6B ; RTEL1	0.925	0.160	20	63687936	splice acceptor variant	G/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
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