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
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs387906659	AKT2	0.742	0.280	19	40257052	stop gained	C/A;T	snv			14
rs397514606	AKT3	0.763	0.320	1	243695714	missense variant	C/T	snv			14
rs34301344	ARL11	0.689	0.400	13	49630893	stop gained	G/A	snv	9.7E-03	7.9E-03	22
rs1800054	ATM	0.827	0.080	11	108227849	missense variant	C/G;T	snv	7.1E-03		7
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	39
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs1799944	BRCA2	0.882	0.080	13	32337326	missense variant	A/G	snv	5.4E-02	4.5E-02	5
rs45580035	BRCA2	0.790	0.240	13	32380043	missense variant	C/T	snv	1.2E-05		8
rs13006529	CASP10	0.851	0.080	2	201217736	missense variant	T/A	snv	0.41	0.42	7
rs10931936	CASP8	0.827	0.120	2	201279205	intron variant	T/C	snv		0.72	6
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
rs104894097	CDKN2A	0.807	0.240	9	21974757	missense variant	C/A;G;T	snv	1.7E-05; 1.3E-05		8
rs3731249	CDKN2A	0.683	0.320	9	21970917	missense variant	C/A;G;T	snv	2.1E-02		23
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs4950928	CHI3L1	0.653	0.560	1	203186754	upstream gene variant	G/A;C;T	snv			33
rs927650	CYP24A1	0.763	0.240	20	54156202	intron variant	T/A;C	snv			9
rs397517132	EGFR	0.623	0.280	7	55191846	missense variant	A/T	snv			48
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs151322829	FAN1	0.882	0.080	15	30905792	missense variant	C/G;T	snv	4.2E-03		5