DisGeNET - a database of gene-disease associations

List of shared variants

melanoma, C0025202

Disease: Malignant neoplasm of breast

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
rs17577	SLC12A5-AS1 ; MMP9	0.649	0.520	20	46014472	missense variant	G/A;C	snv	0.16		30
rs927650	CYP24A1	0.763	0.240	20	54156202	intron variant	T/A;C	snv			9
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
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs387906659	AKT2	0.742	0.280	19	40257052	stop gained	C/A;T	snv			13
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
rs121912654	TP53	0.683	0.400	17	7675143	missense variant	C/A;T	snv	4.0E-05		19
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		20
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		36
rs3136025	LIG3	0.882	0.080	17	35002030	missense variant	G/A	snv	6.8E-03	2.7E-02	3
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		56
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	22
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1800566	NQO1	0.576	0.680	16	69711242	missense variant	G/A	snv	0.25	0.21	59
rs151322829	FAN1	0.882	0.080	15	30905792	missense variant	C/G;T	snv	4.2E-03		5
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	103
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	31
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs1799944	BRCA2	0.882	0.080	13	32337326	missense variant	A/G	snv	5.4E-02	4.5E-02	5
rs34301344	ARL11	0.689	0.400	13	49630893	stop gained	G/A	snv	9.7E-03	7.9E-03	22