DisGeNET - a database of gene-disease associations

List of shared variants

Neoplasm Metastasis, C0027627

Disease: melanoma

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
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs1057519695	NRAS	0.641	0.520	1	114713907	missense variant	TT/CA;CC	mnv			35
rs1057519834	NRAS	0.658	0.480	1	114713908	missense variant	TG/CT	mnv			31
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			59
rs121913254	NRAS	0.658	0.440	1	114713909	stop gained	G/A;C;T	snv			31
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs16901979	PCAT1 ; CASC19	0.724	0.480	8	127112671	intron variant	C/A	snv		0.16	17
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs121913364	BRAF	0.641	0.520	7	140753334	missense variant	T/C;G	snv	4.0E-06		34
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			31
rs121913366	BRAF	0.763	0.400	7	140753345	missense variant	A/C;T	snv			12
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
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
rs1444669684	CDKN2B-AS1 ; CDKN2A	0.658	0.480	9	21994285	missense variant	C/A;T	snv			36
rs112445441	KRAS	0.658	0.400	12	25245347	missense variant	C/A;G;T	snv			32
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			63
rs121913403	CTNNB1	0.683	0.240	3	41224622	missense variant	C/A;G;T	snv			23
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs17577	SLC12A5-AS1 ; MMP9	0.649	0.520	20	46014472	missense variant	G/A;C	snv	0.16		31