DisGeNET - a database of gene-disease associations

List of shared variants

melanoma, C0025202

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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			33
rs121913396	CTNNB1	0.732	0.200	3	41224607	missense variant	A/C;G;T	snv			13
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs7041	GC	0.576	0.800	4	71752617	missense variant	A/C;T	snv	0.52; 4.0E-06		64
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs4444903	EGF	0.630	0.360	4	109912954	5 prime UTR variant	A/G	snv		0.51	35
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs7975232	VDR	0.576	0.760	12	47845054	intron variant	C/A	snv	0.51	0.55	56
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			73
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			73
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs121913403	CTNNB1	0.683	0.240	3	41224622	missense variant	C/A;G;T	snv			23
rs121913409	CTNNB1	0.708	0.400	3	41224646	missense variant	C/A;G;T	snv			21
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			63
rs121912654	TP53	0.683	0.400	17	7675143	missense variant	C/A;T	snv	4.0E-05		21
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		47
rs387906659	AKT2	0.742	0.280	19	40257052	stop gained	C/A;T	snv			14
rs6684439	IL6R	0.925	0.080	1	154423363	intron variant	C/A;T	snv			2
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79