DisGeNET - a database of gene-disease associations

List of shared variants

melanoma, C0025202

Disease: Squamous cell carcinoma

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
rs17577	SLC12A5-AS1 ; MMP9	0.649	0.520	20	46014472	missense variant	G/A;C	snv	0.16		31
rs6059655	RALY	0.790	0.080	20	34077942	intron variant	A/G	snv		0.95	10
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
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
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		57
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1800566	NQO1	0.576	0.680	16	69711242	missense variant	G/A	snv	0.25	0.21	59
rs1805007	MC1R	0.695	0.280	16	89919709	missense variant	C/A;G;T	snv	4.4E-02		25
rs885479	MC1R	0.732	0.280	16	89919746	missense variant	G/A	snv	0.15	8.3E-02	16
rs1051730	CHRNA3	0.641	0.600	15	78601997	synonymous variant	G/A	snv	0.27	0.26	43
rs1800407	OCA2	0.807	0.200	15	27985172	missense variant	C/T	snv	4.7E-02	4.9E-02	10
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs7335046		0.807	0.040	13	99389484	downstream gene variant	G/C	snv		0.80	7
rs112445441	KRAS	0.658	0.400	12	25245347	missense variant	C/A;G;T	snv			32
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			63
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs749140677	VDR	0.752	0.240	12	47857185	missense variant	G/A	snv	8.0E-06		13
rs1126809	LOC107984363 ; TYR	0.683	0.320	11	89284793	missense variant	G/A	snv	0.18	0.18	29