DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of skin, C0007114

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs2228000	XPC	0.585	0.560	3	14158387	missense variant	G/A	snv	0.24	0.21	53
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs12203592	IRF4	0.649	0.320	6	396321	intron variant	C/T	snv		0.10	38
rs1126809	LOC107984363 ; TYR	0.683	0.320	11	89284793	missense variant	G/A	snv	0.18	0.18	29
rs1805007	MC1R	0.695	0.280	16	89919709	missense variant	C/A;G;T	snv	4.4E-02		25
rs1805008	MC1R	0.732	0.240	16	89919736	missense variant	C/T	snv	4.7E-02	4.8E-02	16
rs872071	IRF4	0.742	0.360	6	411064	3 prime UTR variant	A/G;T	snv			13
rs749140677	VDR	0.752	0.240	12	47857185	missense variant	G/A	snv	8.0E-06		13
rs104894094	CDKN2A	0.763	0.200	9	21971058	missense variant	C/A;G;T	snv	8.5E-06; 4.3E-06		12