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
rs6897932	IL7R	0.683	0.560	5	35874473	missense variant	C/T	snv	0.23	0.21	25
rs3194051	IL7R	0.851	0.200	5	35876172	missense variant	A/G	snv	0.24	0.28	4
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
rs2596542	MICA-AS1 ; MICA	0.724	0.200	6	31398818	upstream gene variant	C/T	snv		0.41	18
rs6920220		0.742	0.440	6	137685367	intron variant	G/A	snv		0.16	14
rs9402373		1.000	0.080	6	131956291	intron variant	C/A;G;T	snv			1
rs1799889	SERPINE1	0.649	0.600	7	101126430	upstream gene variant	A/G	snv			31
rs267607117	TMEM67	0.925	0.080	8	93780747	missense variant	G/T	snv			2
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs7080536	HABP2 ; NRAP	0.683	0.360	10	113588287	missense variant	G/A	snv	2.2E-02	2.4E-02	27
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
rs17886084	MMP1 ; WTAPP1	1.000	0.080	11	102799765	intron variant	C/-	delins			2
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
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
rs28934571	TP53	0.645	0.360	17	7674216	missense variant	C/A;G	snv			31