DisGeNET - a database of gene-disease associations

List of associated variants

Liver carcinoma, C2239176

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
rs3740066	ABCC2	0.724	0.440	10	99844450	missense variant	C/G;T	snv	2.4E-05; 0.34		20
rs9912300	ACLY	0.827	0.120	17	41869011	intron variant	G/A;C;T	snv	4.2E-06; 0.78		5
rs1800682	ACTA2 ; FAS	0.637	0.440	10	88990206	non coding transcript exon variant	A/G	snv		0.54	32
rs12621038	ACYP2	0.882	0.120	2	54163976	intron variant	C/T	snv		0.16	3
rs653765	ADAM10	0.763	0.240	15	58749813	upstream gene variant	T/C;G	snv		0.45	10
rs61573157	ADAMTS14	0.882	0.160	10	70760503	missense variant	C/T	snv	8.6E-02	7.5E-02	6
rs12774070	ADAMTS14	0.925	0.120	10	70753879	missense variant	C/A;G	snv	0.23	0.19	4
rs1014509103	ADAMTS4	1.000	0.080	1	161194005	missense variant	G/A	snv	4.0E-06	2.8E-05	2
rs2830581	ADAMTS5	1.000	0.080	21	26921481	3 prime UTR variant	G/A;C	snv			3
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs1501299	ADIPOQ ; ADIPOQ-AS1	0.597	0.720	3	186853334	intron variant	G/C;T	snv			52
rs4024	AFP	0.827	0.120	4	73435667	intron variant	G/A	snv		0.52	7
rs737241	AFP	0.827	0.120	4	73451012	intron variant	G/A;C	snv			7
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs184003	AGER	0.724	0.400	6	32182519	intron variant	C/A	snv	0.12	0.12	15
rs1800625	AGER ; PBX2	0.641	0.680	6	32184665	upstream gene variant	A/G	snv		0.15	39
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs2494752	AKT1	0.790	0.120	14	104797271	upstream gene variant	A/G	snv		0.85	10
rs387906659	AKT2	0.742	0.280	19	40257052	stop gained	C/A;T	snv			14
rs397514606	AKT3	0.763	0.320	1	243695714	missense variant	C/T	snv			14
rs863223904	ALAS2	0.827	0.200	X	55014829	missense variant	C/T	snv	6.1E-06		5
rs762334560	ALB	1.000	0.080	4	73404391	missense variant	T/C	snv	8.0E-06	7.0E-06	1
rs2276724	ALDH1L1	1.000	0.080	3	126135566	missense variant	T/C	snv	0.14	0.15	2
rs1127717	ALDH1L1-AS1 ; ALDH1L1	0.925	0.160	3	126107216	missense variant	T/C	snv	0.18	0.20	3
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116