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
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			59
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
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
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			31
rs121913233	HRAS ; LRRC56	0.627	0.520	11	533874	missense variant	T/A;C;G	snv			37
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs121913240	KRAS	0.672	0.440	12	25227342	missense variant	T/A;C;G	snv			24
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
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs121913315	STK11	0.882	0.160	19	1220488	missense variant	G/A;T	snv			5
rs121913323	STK11	1.000	0.040	19	1220416	stop gained	C/T	snv			2
rs121913338	BRAF	0.677	0.400	7	140753354	missense variant	T/A;C;G	snv			24
rs121913341	BRAF	0.851	0.280	7	140753350	missense variant	A/C;T	snv			5
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		44
rs121913348	BRAF	0.763	0.480	7	140781617	missense variant	C/A;G;T	snv			20
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs121913364	BRAF	0.641	0.520	7	140753334	missense variant	T/C;G	snv	4.0E-06		34
rs121913366	BRAF	0.763	0.400	7	140753345	missense variant	A/C;T	snv			12
rs121913369	BRAF	0.790	0.280	7	140753346	missense variant	G/A;C	snv	4.0E-06		12
rs121913375	BRAF	0.851	0.240	7	140753339	missense variant	G/A;C	snv			7