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
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
rs1060502990	TERT	0.925	0.040	5	1294549	frameshift variant	-/G	delins			2
rs1061581	HSPA1A ; HSPA1L	0.827	0.200	6	31816809	synonymous variant	G/A	snv			6
rs111521887	TOLLIP	1.000	0.040	11	1291476	intron variant	C/G	snv		0.12	1
rs113993959	CFTR	0.677	0.280	7	117587778	stop gained	G/A;T	snv	8.0E-06; 3.4E-04		25
rs11568818	MMP7	0.763	0.280	11	102530930	upstream gene variant	T/A;C	snv			15
rs11568819	MMP7	1.000	0.040	11	102530902	upstream gene variant	G/A	snv		5.5E-02	2
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
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
rs121918666	TERT	0.882	0.160	5	1266524	missense variant	C/T	snv	8.2E-06	7.0E-06	3
rs12602273	TP53	0.851	0.080	17	7679695	intron variant	C/G	snv		0.15	4
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
rs1555899640	RTEL1 ; RTEL1-TNFRSF6B	1.000	0.040	20	63661935	frameshift variant	TC/-	delins			1
rs17690703	MAPT-AS1	0.882	0.160	17	45847931	intron variant	C/T	snv		0.18	4
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
rs1800925	IL13 ; TH2LCRR	0.627	0.560	5	132657117	non coding transcript exon variant	C/G;T	snv			37
rs1881984		1.000	0.040	3	169746671	intergenic variant	A/G	snv		0.30	1
rs199422294	TERT	0.827	0.160	5	1280216	missense variant	C/T	snv			5