DisGeNET - a database of gene-disease associations

List of associated variants

Idiopathic Pulmonary Fibrosis, C1800706

Source: GWASDB ×

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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
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	10
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	9
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	8
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	4
rs17690703	MAPT-AS1	0.882	0.160	17	45847931	intron variant	C/T	snv		0.18	4
rs2853676	TERT	0.667	0.560	5	1288432	intron variant	T/A;C	snv			4
rs2075800	HSPA1L	0.776	0.440	6	31810169	missense variant	C/T	snv	0.32	0.25	3
rs2227956	HSPA1L	0.752	0.400	6	31810495	missense variant	G/A;C;T	snv	0.87		3
rs5029939	TNFAIP3	0.701	0.440	6	137874586	intron variant	C/G	snv		0.13	2
rs35705950		0.763	0.240	11	1219991	splice region variant	G/A;T	snv			1
rs2076295	DSP	0.882	0.080	6	7562999	intron variant	T/G	snv		0.46	1
rs5743894	LOC105376512 ; TOLLIP	1.000	0.040	11	1303542	intron variant	T/A;C	snv			1
rs11568818	MMP7	0.763	0.280	11	102530930	upstream gene variant	T/A;C	snv			1
rs868903	MUC5B	0.882	0.120	11	1221460	upstream gene variant	T/C	snv		0.47	1
rs111521887	TOLLIP	1.000	0.040	11	1291476	intron variant	C/G	snv		0.12	1
rs3750920	TOLLIP	0.807	0.120	11	1288726	synonymous variant	C/T	snv	0.40	0.38	1
rs5743890	TOLLIP	0.925	0.040	11	1304599	intron variant	T/C	snv		9.7E-02	1