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
rs121917834	SFTPC	0.790	0.080	8	22163096	missense variant	T/A;C	snv	3.6E-05		10
rs121917835	BMP1 ; SFTPC	0.925	0.040	8	22164010	missense variant	T/A	snv			2
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
rs2075800	HSPA1L	0.776	0.440	6	31810169	missense variant	C/T	snv	0.32	0.25	8
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
rs1061581	HSPA1A ; HSPA1L	0.827	0.200	6	31816809	synonymous variant	G/A	snv			6
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs733590	CDKN1A ; DINOL	0.882	0.120	6	36677426	intron variant	T/C	snv		0.41	3
rs2395655	CDKN1A ; DINOL	0.882	0.120	6	36677919	5 prime UTR variant	A/G	snv	0.43	0.49	5
rs628977	ADAM33	0.851	0.160	20	3669074	intron variant	T/C	snv		0.65	4
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs17690703	MAPT-AS1	0.882	0.160	17	45847931	intron variant	C/T	snv		0.18	4
rs73606754	TTYH1	1.000	0.040	19	54420809	splice region variant	C/G;T	snv			1
rs8182352		0.827	0.160	17	5651667	intergenic variant	T/C	snv		0.44	5
rs1555899640	RTEL1 ; RTEL1-TNFRSF6B	1.000	0.040	20	63661935	frameshift variant	TC/-	delins			1
rs869312855	RTEL1-TNFRSF6B ; RTEL1	1.000	0.040	20	63678184	splice donor variant	-/T	delins			1
rs863225129	RTEL1-TNFRSF6B ; RTEL1	0.925	0.160	20	63687936	splice acceptor variant	G/A	snv			2
rs748223349	RTEL1-TNFRSF6B ; RTEL1	1.000	0.040	20	63688001	missense variant	G/A;C	snv	1.6E-05		1
rs863225130	RTEL1-TNFRSF6B ; RTEL1	1.000	0.040	20	63688161	missense variant	T/G	snv			1
rs863225053	RTEL1-TNFRSF6B ; RTEL1	0.925	0.040	20	63690162	inframe deletion	ATGTCATCC/-	delins			2
rs776744306	RTEL1-TNFRSF6B ; RTEL1	0.882	0.160	20	63690442	splice donor variant	G/A;C	snv	4.5E-06		3
rs398123017	RTEL1 ; RTEL1-TNFRSF6B	0.851	0.160	20	63693211	stop gained	C/A;G;T	snv	4.0E-06; 3.2E-05		4
rs146221660	RTEL1 ; RTEL1-TNFRSF6B	0.925	0.040	20	63693248	missense variant	G/A;T	snv	2.8E-05; 4.0E-06		2