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
rs267607117	TMEM67	0.925	0.080	8	93780747	missense variant	G/T	snv			2
rs267606959	POLG	0.732	0.200	15	89318986	missense variant	G/A	snv	2.0E-05		19
rs2596542	MICA-AS1 ; MICA	0.724	0.200	6	31398818	upstream gene variant	C/T	snv		0.41	18
rs236918	PCSK7	0.776	0.160	11	117220893	non coding transcript exon variant	G/A;C	snv			10
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs20541	IL13 ; TH2LCRR	0.585	0.720	5	132660272	missense variant	A/G	snv	0.72	0.77	52
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1800925	IL13 ; TH2LCRR	0.627	0.560	5	132657117	non coding transcript exon variant	C/G;T	snv			37
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1800471	TGFB1	0.597	0.840	19	41352971	missense variant	C/G;T	snv	5.6E-02		48
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1799889	SERPINE1	0.649	0.600	7	101126430	upstream gene variant	A/G	snv			31
rs17886084	MMP1 ; WTAPP1	1.000	0.080	11	102799765	intron variant	C/-	delins			2
rs17047200	TLL1	0.827	0.200	4	166008836	intron variant	A/T	snv		0.18	5
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs16851720	RNF7	0.827	0.120	3	141744456	intron variant	A/C	snv		0.21	5
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv			78
rs1430059719	MMP9	1.000	0.080	20	46012456	missense variant	G/C	snv	4.0E-06		1
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
rs12980275		0.701	0.360	19	39241143	upstream gene variant	A/G	snv		0.36	23
rs12979860	IFNL4	0.547	0.520	19	39248147	intron variant	C/T	snv		0.39	84
rs12785878	NADSYN1	0.677	0.520	11	71456403	intron variant	G/A;T	snv			25
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614