DisGeNET - a database of gene-disease associations

List of associated variants

Cirrhosis, C1623038

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
rs57749775	KRT8	0.851	0.080	12	52904822	missense variant	A/G;T	snv	1.7E-03; 4.0E-06		6
rs10433937	HSD17B13	0.882	0.080	4	87308948	intron variant	T/A;C;G	snv			4
rs10020432	AFP	0.925	0.080	4	73455883	3 prime UTR variant	A/G	snv		0.54	2
rs1140409	MIR3064 ; DDX5	0.925	0.080	17	64500552	missense variant	A/C	snv	5.4E-02	5.0E-02	2
rs12104272	SCAF1	0.925	0.080	19	49644795	intron variant	G/A	snv		0.44	2
rs2298839	AFP	0.925	0.080	4	73445127	splice region variant	A/G;T	snv	0.54		2
rs2679757	AZIN1	0.925	0.080	8	102858590	intron variant	A/G	snv		0.37	2
rs4646038	CASP9	0.925	0.080	1	15506705	intron variant	C/T	snv		7.0E-06	2
rs571462252	KRT8	0.925	0.080	12	52904720	missense variant	G/A	snv			2
rs675520	LOC102723649 ; LOC105378018	0.925	0.080	6	137672095	non coding transcript exon variant	A/G;T	snv			2
rs6834059	AFP	0.925	0.080	4	73435958	intron variant	C/G	snv		0.23	2
rs8021276		0.925	0.080	14	92110162	upstream gene variant	A/G;T	snv			2
rs2289030	MIR492 ; KRT19P2	0.882	0.120	12	94834510	non coding transcript exon variant	G/C	snv	9.7E-02	6.3E-02	6
rs16851720	RNF7	0.827	0.120	3	141744456	intron variant	A/C	snv		0.21	5
rs843645	ACYP2	0.827	0.120	2	54247527	intron variant	T/A;G	snv		0.19	5
rs121918664	TERT	0.851	0.120	5	1254395	missense variant	C/T	snv	5.2E-05	9.1E-05	4
rs10945859	PRKN	0.882	0.120	6	162721570	intron variant	T/C	snv		0.17	3
rs1431315635	HFE ; LOC108783645	0.882	0.120	6	26092928	missense variant	C/T	snv	4.0E-06		3
rs1485766	VEGFC ; LOC105377555	0.882	0.120	4	176689730	intron variant	T/A;G	snv			3
rs376373278	MPO	0.882	0.120	17	58279015	missense variant	G/A;C	snv	4.2E-06		3
rs3844942		0.882	0.120	4	189571800	intergenic variant	T/C	snv			3
rs755284374	HFE	0.882	0.120	6	26093122	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		3
rs767864210	PDLIM5	0.882	0.120	4	94657500	missense variant	G/A;T	snv	8.0E-05	2.1E-05	3
rs897206619	HFE	0.882	0.120	6	26093128	missense variant	C/T	snv		3.5E-05	3
rs972427414	MPO	0.882	0.120	17	58279379	missense variant	A/G	snv			3