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
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
rs121434596	NRAS	0.677	0.440	1	114716123	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		26
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			25
rs121913254	NRAS	0.658	0.440	1	114713909	stop gained	G/A;C;T	snv			31
rs121913255	NRAS	0.667	0.400	1	114713907	missense variant	T/A;G	snv			26
rs36053993	MUTYH	0.677	0.280	1	45331556	missense variant	C/T	snv	3.0E-03	3.3E-03	31
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs397514606	AKT3	0.763	0.320	1	243695714	missense variant	C/T	snv			14
rs755007339	RGS7	1.000	0.040	1	241098711	missense variant	G/A;C	snv	1.2E-05; 4.0E-06		2
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			51
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
rs910532454	CXCR4	0.882	0.080	2	136115453	missense variant	C/A;T	snv	4.0E-06		4
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1057519837	CTNNB1	1.000	0.040	3	41224631	missense variant	C/G;T	snv			2
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
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
rs149617956	MITF	0.672	0.560	3	69964940	missense variant	G/A	snv	1.4E-03	1.6E-03	32
rs2228000	XPC	0.585	0.560	3	14158387	missense variant	G/A	snv	0.24	0.21	53
rs750697353	RAF1	0.882	0.080	3	12608919	missense variant	C/T	snv	1.2E-05	2.8E-05	4