DisGeNET - a database of gene-disease associations

List of associated variants

Liver carcinoma, C2239176

Source: BEFREE ×

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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
rs9619311	TIMP3 ; SYN3	0.851	0.160	22	32800707	intron variant	T/C	snv		0.40	4
rs4821116	UBE2L3	0.925	0.120	22	21619030	intron variant	C/A;T	snv		0.18	2
rs139394	CBX7	1.000	0.080	22	39142209	intron variant	A/C	snv		0.70	1
rs2011861	APOBEC3G	1.000	0.080	22	39084658	intron variant	C/G;T	snv			1
rs2267401	APOBEC3B ; APOBEC3A	1.000	0.080	22	38982116	intron variant	T/A;G	snv			1
rs5757463	APOBEC3G	1.000	0.080	22	39076560	upstream gene variant	G/C;T	snv			1
rs710190	CBX7	0.925	0.200	22	39131785	3 prime UTR variant	T/C	snv		0.48	1
rs7291971	APOBEC3G	1.000	0.080	22	39076169	upstream gene variant	C/A;G	snv			1
rs734809	RTCB	1.000	0.080	22	32413011	upstream gene variant	C/G;T	snv		0.13	1
rs760125354	APOBEC3B ; APOBEC3A ; APOBEC3B-AS1	1.000	0.080	22	38991371	stop gained	G/C;T	snv			1
rs767649	MIR155HG ; MIR155	0.695	0.480	21	25572410	intron variant	T/A	snv		7.5E-02	18
rs2834167	IL10RB	0.752	0.360	21	33268483	missense variant	A/G	snv	0.33	0.25	10
rs2257167	IFNAR1	0.807	0.200	21	33343393	missense variant	G/C	snv	0.18	0.16	6
rs1012335	IFNAR1	0.925	0.080	21	33341701	intron variant	G/C;T	snv			2
rs2830581	ADAMTS5	1.000	0.080	21	26921481	3 prime UTR variant	G/A;C	snv			2
rs7499	COL18A1 ; SLC19A1	0.925	0.200	21	45512414	3 prime UTR variant	G/A	snv	0.42	0.41	2
rs17875871	IFNAR1	1.000	0.080	21	33358387	3 prime UTR variant	GAGA/-;GA	delins			1
rs455804	GRIK1	1.000	0.080	21	29773850	intron variant	A/C;G	snv			1
rs8971	GART	1.000	0.080	21	33511311	missense variant	T/C	snv	0.21	0.18	1
rs3746444	MIR499A ; MIR499B ; MYH7B ; LOC107985393	0.514	0.760	20	34990448	mature miRNA variant	A/G	snv	0.20	0.19	105
rs2273535	AURKA	0.645	0.360	20	56386485	missense variant	A/C;T	snv	0.28		37
rs1047972	AURKA	0.716	0.240	20	56386407	missense variant	T/C	snv	0.85	0.84	19
rs2424913	DNMT3B	0.708	0.440	20	32786453	intron variant	C/T	snv	0.56	0.53	18
rs121913495	GNAS	0.672	0.400	20	58909366	missense variant	G/A;T	snv			15
rs6024836	FAM210B ; AURKA	0.851	0.160	20	56369012	downstream gene variant	G/A	snv		0.42	6