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
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
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
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs138106763	SLC12A9	1.000	0.040	7	100857102	missense variant	A/G	snv	7.2E-05	1.2E-04	2
rs776935407	SGSM3	0.851	0.080	22	40409261	missense variant	T/A	snv	4.1E-06		6
rs1799939	RET	0.658	0.280	10	43114671	missense variant	G/A;C;T	snv	0.21		27
rs1057519874	RAC1	0.807	0.120	7	6387261	missense variant	C/A;T	snv			9
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs121913254	NRAS	0.658	0.440	1	114713909	stop gained	G/A;C;T	snv			31
rs1800566	NQO1	0.576	0.680	16	69711242	missense variant	G/A	snv	0.25	0.21	59
rs36053993	MUTYH	0.677	0.280	1	45331556	missense variant	C/T	snv	3.0E-03	3.3E-03	31
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
rs149617956	MITF	0.672	0.560	3	69964940	missense variant	G/A	snv	1.4E-03	1.6E-03	32
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs1805007	MC1R	0.695	0.280	16	89919709	missense variant	C/A;G;T	snv	4.4E-02		25
rs727503094	LRRC56 ; HRAS	0.633	0.440	11	534287	missense variant	GC/AG;AT;TA;TT	mnv			41