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
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
rs8182352		0.827	0.160	17	5651667	intergenic variant	T/C	snv		0.44	5
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
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
rs3750920	TOLLIP	0.807	0.120	11	1288726	synonymous variant	C/T	snv	0.40	0.38	7
rs2075800	HSPA1L	0.776	0.440	6	31810169	missense variant	C/T	snv	0.32	0.25	8
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
rs2227956	HSPA1L	0.752	0.400	6	31810495	missense variant	G/A;C;T	snv	0.87		12
rs35705950		0.763	0.240	11	1219991	splice region variant	G/A;T	snv			14
rs11568818	MMP7	0.763	0.280	11	102530930	upstream gene variant	T/A;C	snv			15
rs74597325	CFTR	0.708	0.320	7	117587811	stop gained	C/G;T	snv	6.8E-05		18
rs5029939	TNFAIP3	0.701	0.440	6	137874586	intron variant	C/G	snv		0.13	19