DisGeNET - a database of gene-disease associations

List of shared variants

melanoma, C0025202

Disease: Carcinogenesis

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
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs121913240	KRAS	0.672	0.440	12	25227342	missense variant	T/A;C;G	snv			24
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs121913521	KIT	0.790	0.120	4	54727447	missense variant	T/A;C;G	snv			12
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			73
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1057519853	GNAQ	0.851	0.080	9	77794572	missense variant	TG/AA	mnv			6
rs121913492	GNAQ	0.790	0.160	9	77794572	missense variant	T/A;C;G	snv			11
rs529365517	FLVCR1 ; FLVCR1-DT	0.925	0.080	1	212858540	missense variant	C/T	snv			3
rs267601394	EZH2	0.807	0.200	7	148811635	missense variant	T/A;G	snv			8
rs1238981206	ERBB2 ; MIR4728	0.925	0.080	17	39724828	missense variant	G/A	snv	4.0E-06		3
rs746830376	EPHB2	0.925	0.200	1	22784501	missense variant	G/A	snv	2.4E-05	3.5E-05	4
rs4444903	EGF	0.630	0.360	4	109912954	5 prime UTR variant	A/G	snv		0.51	35
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs1444669684	CDKN2B-AS1 ; CDKN2A	0.658	0.480	9	21994285	missense variant	C/A;T	snv			36
rs771138120	CDKN2A	0.827	0.120	9	21971191	missense variant	G/A;C;T	snv	9.1E-06; 4.5E-06		13
rs866551255	CDKN1A	1.000	0.040	6	36684145	missense variant	G/A	snv			2
rs11547328	CDK4	0.701	0.360	12	57751648	missense variant	G/A;T	snv	4.0E-06		27
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913338	BRAF	0.677	0.400	7	140753354	missense variant	T/A;C;G	snv			24
rs121913369	BRAF	0.790	0.280	7	140753346	missense variant	G/A;C	snv	4.0E-06		12
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480