DisGeNET - a database of gene-disease associations

List of shared variants

melanoma, C0025202

Disease: Malignant neoplasm of breast

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
rs13006529	CASP10	0.851	0.080	2	201217736	missense variant	T/A	snv	0.41	0.42	7
rs151322829	FAN1	0.882	0.080	15	30905792	missense variant	C/G;T	snv	4.2E-03		5
rs16953002	FTO	0.882	0.080	16	54080912	intron variant	G/A	snv		0.19	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
rs2284378	RALY	0.851	0.080	20	34000289	intron variant	T/C;G	snv			4
rs3136025	LIG3	0.882	0.080	17	35002030	missense variant	G/A	snv	6.8E-03	2.7E-02	3
rs10931936	CASP8	0.827	0.120	2	201279205	intron variant	T/C	snv		0.72	6
rs401618	HLA-A	0.827	0.120	6	29982433	downstream gene variant	A/G;T	snv			5
rs104894097	CDKN2A	0.807	0.240	9	21974757	missense variant	C/A;G;T	snv	1.7E-05; 1.3E-05		8
rs45580035	BRCA2	0.790	0.240	13	32380043	missense variant	C/T	snv	1.2E-05		8
rs927650	CYP24A1	0.763	0.240	20	54156202	intron variant	T/A;C	snv			9
rs180177132	PALB2	0.790	0.280	16	23621362	stop gained	C/T	snv	6.0E-05	2.1E-05	11
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	31
rs387906659	AKT2	0.742	0.280	19	40257052	stop gained	C/A;T	snv			14
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		23
rs397514606	AKT3	0.763	0.320	1	243695714	missense variant	C/T	snv			14
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		57
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	43
rs4516035	VDR	0.776	0.360	12	47906043	non coding transcript exon variant	T/C	snv		0.31	10
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	37