DisGeNET - a database of gene-disease associations

List of associated variants

Idiopathic Pulmonary Fibrosis, C1800706

Source: GWASCAT ×

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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	16
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	12
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	9
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	6
rs2076295	DSP	0.882	0.080	6	7562999	intron variant	T/G	snv		0.46	4
rs2853676	TERT	0.667	0.560	5	1288432	intron variant	T/A;C	snv			4
rs2395655	CDKN1A ; DINOL	0.882	0.120	6	36677919	5 prime UTR variant	A/G	snv	0.43	0.49	2
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
rs2004640	IRF5	0.662	0.520	7	128938247	splice donor variant	T/G	snv		0.52	1
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
rs17690703	MAPT-AS1	0.882	0.160	17	45847931	intron variant	C/T	snv		0.18	1
rs11568818	MMP7	0.763	0.280	11	102530930	upstream gene variant	T/A;C	snv			1
rs11568819	MMP7	1.000	0.040	11	102530902	upstream gene variant	G/A	snv		5.5E-02	1
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		1
rs5743890	TOLLIP	0.925	0.040	11	1304599	intron variant	T/C	snv		9.7E-02	1
rs73606754	TTYH1	1.000	0.040	19	54420809	splice region variant	C/G;T	snv			1