DisGeNET - a database of gene-disease associations

List of associated variants

Fibrosis, Liver, C0239946

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
rs1060500764	SMAD3	1.000	0.080	15	67181363	missense variant	A/G	snv			1
rs1430059719	MMP9	1.000	0.080	20	46012456	missense variant	G/C	snv	4.0E-06		1
rs781521972	SMAD2	1.000	0.080	18	47896706	synonymous variant	T/A	snv	4.0E-06		1
rs9402373		1.000	0.080	6	131956291	intron variant	C/A;G;T	snv			1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs900837802	EIF2AK3	1.000	0.080	2	88595498	missense variant	T/C	snv		7.0E-06	1
rs1208663703	TMPRSS6	0.763	0.200	22	37086414	missense variant	T/C	snv	5.2E-06	7.0E-06	9
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
rs7080536	HABP2 ; NRAP	0.683	0.360	10	113588287	missense variant	G/A	snv	2.2E-02	2.4E-02	27
rs5496	ICAM1	1.000	0.080	19	10284771	intron variant	G/A	snv	7.8E-03	3.3E-02	1
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs58542926	TM6SF2	0.630	0.440	19	19268740	missense variant	C/T	snv	6.5E-02	5.8E-02	42
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs8099917		0.581	0.600	19	39252525	upstream gene variant	T/G	snv		0.16	60
rs6920220		0.742	0.440	6	137685367	intron variant	G/A	snv		0.16	14
rs1001179	CAT	0.641	0.680	11	34438684	upstream gene variant	C/T	snv		0.16	33
rs17047200	TLL1	0.827	0.200	4	166008836	intron variant	A/T	snv		0.18	5
rs6897932	IL7R	0.683	0.560	5	35874473	missense variant	C/T	snv	0.23	0.21	25
rs16851720	RNF7	0.827	0.120	3	141744456	intron variant	A/C	snv		0.21	5
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs14158	LDLR	0.851	0.160	19	11131368	synonymous variant	G/A	snv	0.24	0.22	5
rs13412852	LPIN1	0.851	0.120	2	11774815	intron variant	C/T	snv		0.26	4
rs3194051	IL7R	0.851	0.200	5	35876172	missense variant	A/G	snv	0.24	0.28	4
rs1050450	GPX1	0.623	0.600	3	49357401	missense variant	G/A	snv	0.28	0.30	43