DisGeNET - a database of gene-disease associations

List of shared variants

melanoma, C0025202

Disease: Malignant neoplasm of breast

Source: BEFREE ×

Results per page

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
rs13006529	CASP10	0.851	0.080	2	201217736	missense variant	T/A	snv	0.41	0.42	6
rs151322829	FAN1	0.882	0.080	15	30905792	missense variant	C/G;T	snv	4.2E-03		5
rs1799944	BRCA2	0.882	0.080	13	32337326	missense variant	A/G	snv	5.4E-02	4.5E-02	5
rs1800054	ATM	0.827	0.080	11	108227849	missense variant	C/G;T	snv	7.1E-03		7
rs3136025	LIG3	0.882	0.080	17	35002030	missense variant	G/A	snv	6.8E-03	2.7E-02	3
rs401618	HLA-A	0.827	0.120	6	29982433	downstream gene variant	A/G;T	snv			5
rs927650	CYP24A1	0.763	0.240	20	54156202	intron variant	T/A;C	snv			9
rs34767364	NBN	0.701	0.280	8	89971232	missense variant	G/A;C	snv	2.5E-03		20
rs36053993	MUTYH	0.677	0.280	1	45331556	missense variant	C/T	snv	3.0E-03	3.3E-03	24
rs387906659	AKT2	0.742	0.280	19	40257052	stop gained	C/A;T	snv			13
rs397517132	EGFR	0.623	0.280	7	55191846	missense variant	A/T	snv			48
rs3731249	CDKN2A	0.683	0.320	9	21970917	missense variant	C/A;G;T	snv	2.1E-02		22
rs397514606	AKT3	0.763	0.320	1	243695714	missense variant	C/T	snv			13
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		56
rs11225395	MMP8	0.776	0.360	11	102725749	intron variant	A/C;G	snv			11
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	31
rs4516035	VDR	0.776	0.360	12	47906043	non coding transcript exon variant	T/C	snv		0.31	10
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	22
rs121912654	TP53	0.683	0.400	17	7675143	missense variant	C/A;T	snv	4.0E-05		19
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	37
rs2242652	TERT	0.724	0.400	5	1279913	intron variant	G/A	snv		0.18	16
rs34301344	ARL11	0.689	0.400	13	49630893	stop gained	G/A	snv	9.7E-03	7.9E-03	22
rs2227982	LOC105373977 ; PDCD1	0.677	0.480	2	241851281	missense variant	G/A	snv	9.2E-02	4.3E-02	24
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70