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	Num. diseases
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67	242
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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins		214
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv		59
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06	54
rs121912654	TP53	0.683	0.400	17	7675143	missense variant	C/A;T	snv	4.0E-05	21
rs121913233	HRAS ; LRRC56	0.627	0.520	11	533874	missense variant	T/A;C;G	snv		37
rs121913255	NRAS	0.667	0.400	1	114713907	missense variant	T/A;G	snv		26
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv		33
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06	101
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05	44
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06	42
rs121913396	CTNNB1	0.732	0.200	3	41224607	missense variant	A/C;G;T	snv		13
rs121913403	CTNNB1	0.683	0.240	3	41224622	missense variant	C/A;G;T	snv		23
rs121913407	CTNNB1	0.763	0.240	3	41224645	missense variant	T/C;G	snv		12
rs121913409	CTNNB1	0.708	0.400	3	41224646	missense variant	C/A;G;T	snv		21
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv		51
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv		63
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32	134
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06	79
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29	72
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63	99
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02	78
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins		56