DisGeNET - a database of gene-disease associations

List of shared variants

Neoplasms, C0027651

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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs121913512	KIT	0.851	0.120	4	54728055	missense variant	A/C;G	snv			9
rs10735810	VDR	0.662	0.640	12	47879112	start lost	A/C;G;T	snv			26
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs1057519742	GNA11	0.827	0.160	19	3118944	missense variant	A/C;T	snv			7
rs121913341	BRAF	0.851	0.280	7	140753350	missense variant	A/C;T	snv			5
rs121913366	BRAF	0.763	0.400	7	140753345	missense variant	A/C;T	snv			12
rs1024708183	MAP2K7	0.925	0.040	19	7909761	missense variant	A/G	snv			4
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs12628	LRRC56 ; HRAS	0.776	0.160	11	534242	synonymous variant	A/G	snv	0.32	0.34	10
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs397517132	EGFR	0.623	0.280	7	55191846	missense variant	A/T	snv			48
rs777980327	APC	0.716	0.280	5	112837567	missense variant	A/T	snv	4.0E-06	7.0E-06	21
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			31
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
rs1057519860	EGFR	0.851	0.080	7	55160316	missense variant	C/A	snv			5
rs16901979	PCAT1 ; CASC19	0.724	0.480	8	127112671	intron variant	C/A	snv		0.16	17
rs104894094	CDKN2A	0.763	0.200	9	21971058	missense variant	C/A;G;T	snv	8.5E-06; 4.3E-06		12
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
rs112445441	KRAS	0.658	0.400	12	25245347	missense variant	C/A;G;T	snv			32
rs121434596	NRAS	0.677	0.440	1	114716123	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		26