DisGeNET - a database of gene-disease associations

List of shared variants

Malignant neoplasm of stomach, C0024623

Disease: melanoma

Source: BEFREE ×

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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
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
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			213
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs7041	GC	0.576	0.800	4	71752617	missense variant	A/C;T	snv	0.52; 4.0E-06		61
rs1800566	NQO1	0.576	0.680	16	69711242	missense variant	G/A	snv	0.25	0.21	59
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	187
rs758272654	GNAS	0.611	0.680	20	58909201	synonymous variant	T/C	snv	4.0E-06	7.0E-06	50
rs1870377	KDR	0.695	0.520	4	55106807	missense variant	T/A	snv	0.22	0.20	25
rs2066844	NOD2	0.587	0.520	16	50712015	missense variant	C/T	snv	2.6E-02	2.9E-02	49
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		98
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
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
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs361525	TNF	0.562	0.760	6	31575324	upstream gene variant	G/A	snv		4.6E-02	62
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		135
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	118
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs8192284	IL6R	0.724	0.720	1	154454494	missense variant	A/C;T	snv			17