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
rs35705950		0.763	0.240	11	1219991	splice region variant	G/A;T	snv			14
rs8182352		0.827	0.160	17	5651667	intergenic variant	T/C	snv		0.44	5
rs1881984		1.000	0.040	3	169746671	intergenic variant	A/G	snv		0.30	1
rs628977	ADAM33	0.851	0.160	20	3669074	intron variant	T/C	snv		0.65	4
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs121917835	BMP1 ; SFTPC	0.925	0.040	8	22164010	missense variant	T/A	snv			2
rs2395655	CDKN1A ; DINOL	0.882	0.120	6	36677919	5 prime UTR variant	A/G	snv	0.43	0.49	5
rs733590	CDKN1A ; DINOL	0.882	0.120	6	36677426	intron variant	T/C	snv		0.41	3
rs113993959	CFTR	0.677	0.280	7	117587778	stop gained	G/A;T	snv	8.0E-06; 3.4E-04		25
rs74597325	CFTR	0.708	0.320	7	117587811	stop gained	C/G;T	snv	6.8E-05		18
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv		0.46	64
rs2227306	CXCL8	0.677	0.680	4	73741338	intron variant	C/T	snv		0.31	21
rs2227307	CXCL8	0.851	0.240	4	73740952	intron variant	T/G	snv		0.45	6
rs2076295	DSP	0.882	0.080	6	7562999	intron variant	T/G	snv		0.46	5
rs2744371	DSP	0.925	0.080	6	7553941	intron variant	A/C;G	snv			2
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
rs1061581	HSPA1A ; HSPA1L	0.827	0.200	6	31816809	synonymous variant	G/A	snv			6
rs2227956	HSPA1L	0.752	0.400	6	31810495	missense variant	G/A;C;T	snv	0.87		12
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
rs1800925	IL13 ; TH2LCRR	0.627	0.560	5	132657117	non coding transcript exon variant	C/G;T	snv			37
rs2004640	IRF5	0.662	0.520	7	128938247	splice donor variant	T/G	snv		0.52	26
rs62025270	LOC101929679	1.000	0.040	15	85756967	upstream gene variant	G/A	snv		0.17	1
rs5743894	LOC105376512 ; TOLLIP	1.000	0.040	11	1303542	intron variant	T/A;C	snv			1
rs28673968	LOC105377329	1.000	0.040	4	89655739	intron variant	T/C	snv		0.37	1