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
rs11547328	CDK4	0.701	0.360	12	57751648	missense variant	G/A;T	snv	4.0E-06		27
rs104894094	CDKN2A	0.763	0.200	9	21971058	missense variant	C/A;G;T	snv	8.5E-06; 4.3E-06		12
rs3731249	CDKN2A	0.683	0.320	9	21970917	missense variant	C/A;G;T	snv	2.1E-02		23
rs771138120	CDKN2A	0.827	0.120	9	21971191	missense variant	G/A;C;T	snv	9.1E-06; 4.5E-06		13
rs3088440	CDKN2A ; CDKN2A-DT	0.776	0.240	9	21968160	3 prime UTR variant	G/A	snv		0.13	12
rs1444669684	CDKN2B-AS1 ; CDKN2A	0.658	0.480	9	21994285	missense variant	C/A;T	snv			36
rs1487774219	CDKN2B ; CDKN2B-AS1	1.000	0.040	9	22008910	missense variant	T/C	snv	8.1E-06		2
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs776761577	COL11A2	1.000	0.040	6	33179444	missense variant	C/A;T	snv	2.9E-05		2
rs1057519837	CTNNB1	1.000	0.040	3	41224631	missense variant	C/G;T	snv			2
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
rs910532454	CXCR4	0.882	0.080	2	136115453	missense variant	C/A;T	snv	4.0E-06		4
rs1057519860	EGFR	0.851	0.080	7	55160316	missense variant	C/A	snv			5
rs397517132	EGFR	0.623	0.280	7	55191846	missense variant	A/T	snv			48
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs2282679	GC	0.645	0.480	4	71742666	intron variant	T/G	snv		0.21	38
rs1057519742	GNA11	0.827	0.160	19	3118944	missense variant	A/C;T	snv			7
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
rs758272654	GNAS	0.611	0.680	20	58909201	synonymous variant	T/C	snv	4.0E-06	7.0E-06	50
rs1138272	GSTP1	0.611	0.600	11	67586108	missense variant	C/T	snv	5.9E-02	5.5E-02	42
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188