DisGeNET - a database of gene-disease associations

List of shared variants

Primary malignant neoplasm, C1306459

Disease: Liver carcinoma

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
rs1049334	CAV1	0.851	0.280	7	116560326	3 prime UTR variant	G/A;T	snv			6
rs1997623	CAV1	0.807	0.160	7	116525306	missense variant	A/C;G	snv	0.86		9
rs3807987	CAV1	0.732	0.280	7	116539780	intron variant	G/A	snv		7.6E-02	17
rs3807992	CAV1	0.925	0.080	7	116557191	intron variant	G/A	snv		0.28	5
rs9344	CCND1	0.653	0.480	11	69648142	splice region variant	G/A	snv	0.45	0.39	34
rs1799864	CCR2	0.572	0.680	3	46357717	missense variant	G/A	snv	0.13	0.12	68
rs2890658	CD274	0.925	0.080	9	5465130	intron variant	C/A;T	snv			4
rs4143815	CD274	0.689	0.400	9	5468257	3 prime UTR variant	G/C	snv		0.23	20
rs3116496	CD28	0.776	0.160	2	203729789	intron variant	T/C	snv	0.15	0.14	11
rs3212986	CD3EAP ; ERCC1	0.620	0.400	19	45409478	stop gained	C/A;G;T	snv	0.29; 4.3E-06; 4.3E-06		42
rs735482	CD3EAP ; ERCC1	0.742	0.160	19	45408744	missense variant	A/C	snv	0.21	0.20	16
rs10836347	CD44	1.000	0.080	11	35231586	3 prime UTR variant	C/T	snv		0.11	3
rs13347	CD44	0.763	0.320	11	35231725	3 prime UTR variant	C/A;T	snv			12
rs187115	CD44	0.695	0.320	11	35154612	intron variant	T/C	snv		0.37	22
rs13706	CDC6	0.776	0.200	17	40300899	missense variant	G/A;C	snv	0.15; 8.0E-06		11
rs10272859	CDK14	0.925	0.120	7	90689160	intron variant	G/C	snv		0.39	4
rs1801270	CDKN1A	0.689	0.400	6	36684194	missense variant	C/A;T	snv	0.15; 4.4E-05		22
rs1302103336	CHEK1	0.776	0.120	11	125637491	missense variant	T/C	snv	8.1E-06		12
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53
rs4950928	CHI3L1	0.653	0.560	1	203186754	upstream gene variant	G/A;C;T	snv			33
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs3087243	CTLA4	0.623	0.720	2	203874196	downstream gene variant	G/A	snv		0.37	44
rs4135385	CTNNB1	0.742	0.320	3	41237949	non coding transcript exon variant	A/G	snv		0.19	14
rs12338	CTSB	0.807	0.200	8	11853379	missense variant	G/A;C;T	snv	8.0E-06; 0.38; 2.4E-05		10