DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of breast, C0006142

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
rs1799796	XRCC3 ; KLC1	0.790	0.240	14	103699590	intron variant	T/A;C	snv	0.31		7
rs45603942	XRCC3 ; KLC1	0.925	0.080	14	103712895	5 prime UTR variant	G/A	snv		1.2E-04	2
rs861529	XRCC3 ; KLC1	0.925	0.080	14	103712977	3 prime UTR variant	T/C	snv		0.91	2
rs3218536	XRCC2	0.620	0.440	7	152648922	missense variant	C/G;T	snv	4.0E-06; 6.4E-02		37
rs3218408	XRCC2	0.882	0.120	7	152670531	intron variant	A/C;T	snv			3
rs587780128	XRCC2	0.882	0.160	7	152649010	missense variant	G/A	snv	1.2E-05	3.5E-05	3
rs3218550	XRCC2	0.925	0.080	7	152646870	3 prime UTR variant	C/T	snv		5.6E-02	2
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
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
rs1214285376	XRCC1	0.776	0.200	19	43543490	missense variant	G/T	snv	4.0E-06		8
rs915927	XRCC1	0.827	0.120	19	43553075	synonymous variant	T/A;C;G	snv	0.37		5
rs3213282	XRCC1	0.882	0.160	19	43568728	intron variant	G/C	snv		0.57	3
rs25486	XRCC1	0.925	0.080	19	43551746	intron variant	C/G;T	snv			2
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs2228000	XPC	0.585	0.560	3	14158387	missense variant	G/A	snv	0.24	0.21	53
rs767551092	XPC	0.790	0.200	3	14164838	missense variant	G/A	snv	4.0E-06		10
rs750040814	XPC	0.827	0.160	3	14158639	missense variant	C/T	snv	1.6E-05	5.6E-05	5
rs751767428	XPC	0.882	0.080	3	14147363	missense variant	G/A	snv		3.5E-05	3
rs745984531	XPC	0.925	0.080	3	14158847	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		2
rs1800975	XPA	0.701	0.360	9	97697296	5 prime UTR variant	T/C;G	snv	0.63; 4.5E-06; 4.5E-06		19
rs2808668	XPA	0.851	0.120	9	97690153	intron variant	C/G;T	snv			7
rs768911526	XIRP1	1.000	0.080	3	39184545	missense variant	C/T	snv	4.0E-06		1
rs5956583	XIAP	0.925	0.080	X	123900661	missense variant	A/C	snv	0.33	0.39	2
rs207454	XDH	0.851	0.120	2	31344766	intron variant	T/G	snv	0.11	0.16	4