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
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs1161457931	TMPRSS6	0.763	0.200	22	37084836	missense variant	C/T	snv	6.4E-06		9
rs1208663703	TMPRSS6	0.763	0.200	22	37086414	missense variant	T/C	snv	5.2E-06	7.0E-06	9
rs1127354	ITPA	0.667	0.400	20	3213196	missense variant	C/A;G	snv	7.5E-02		26
rs1430059719	MMP9	1.000	0.080	20	46012456	missense variant	G/C	snv	4.0E-06		1
rs12979860	IFNL4	0.547	0.520	19	39248147	intron variant	C/T	snv		0.39	84
rs8099917		0.581	0.600	19	39252525	upstream gene variant	T/G	snv		0.16	60
rs1800471	TGFB1	0.597	0.840	19	41352971	missense variant	C/G;T	snv	5.6E-02		48
rs58542926	TM6SF2	0.630	0.440	19	19268740	missense variant	C/T	snv	6.5E-02	5.8E-02	42
rs12980275		0.701	0.360	19	39241143	upstream gene variant	A/G	snv		0.36	23
rs641738	LOC112268246 ; TMC4 ; MBOAT7	0.689	0.320	19	54173068	missense variant	T/A;C;G	snv			22
rs14158	LDLR	0.851	0.160	19	11131368	synonymous variant	G/A	snv	0.24	0.22	5
rs5496	ICAM1	1.000	0.080	19	10284771	intron variant	G/A	snv	7.8E-03	3.3E-02	1
rs781521972	SMAD2	1.000	0.080	18	47896706	synonymous variant	T/A	snv	4.0E-06		1
rs28934571	TP53	0.645	0.360	17	7674216	missense variant	C/A;G	snv			31
rs267606959	POLG	0.732	0.200	15	89318986	missense variant	G/A	snv	2.0E-05		19
rs1060500764	SMAD3	1.000	0.080	15	67181363	missense variant	A/G	snv			1
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv			78
rs10774671	OAS1	0.732	0.480	12	112919388	splice acceptor variant	G/A;C	snv	0.67		14
rs3741981	OAS1	0.882	0.120	12	112911065	missense variant	G/A;C	snv			3
rs1001179	CAT	0.641	0.680	11	34438684	upstream gene variant	C/T	snv		0.16	33
rs12785878	NADSYN1	0.677	0.520	11	71456403	intron variant	G/A;T	snv			25
rs236918	PCSK7	0.776	0.160	11	117220893	non coding transcript exon variant	G/A;C	snv			10
rs1063303	TRIM5 ; TRIM22	0.925	0.120	11	5698520	missense variant	G/A;C;T	snv	4.0E-06; 0.50; 1.6E-05		2