DisGeNET - a database of gene-disease associations

List of associated variants

Breast Cancer, Familial, C0346153

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
rs876660702	BRCA1	0.851	0.160	17	43063333	splice region variant	C/T	snv			4
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs1131691036	TP53	0.851	0.080	17	7675207	frameshift variant	GCA/CC	delins			8
rs113211432	BARD1	0.882	0.080	2	214767532	frameshift variant	-/TG	delins			3
rs886039958	BRCA1	0.882	0.080	17	43093956	frameshift variant	A/-;AA	delins			3
rs61764370	KRAS	0.662	0.320	12	25207290	3 prime UTR variant	A/C	snv		6.2E-02	29
rs12516	BRCA1	0.851	0.160	17	43044391	3 prime UTR variant	G/A	snv	0.34	0.31	4
rs1801132	ESR1	0.689	0.320	6	151944387	synonymous variant	G/C	snv	0.73	0.80	22
rs16940	BRCA1	0.882	0.080	17	43093220	synonymous variant	A/G	snv	0.35	0.29	5
rs1351211430	ERCC2	0.851	0.120	19	45369118	synonymous variant	G/A;C	snv	8.0E-06		4
rs1060915	BRCA1	1.000	0.080	17	43082453	synonymous variant	A/G	snv	0.35	0.30	1
rs140510218	CTCF	1.000	0.080	16	67621458	synonymous variant	A/G	snv	1.2E-05	7.0E-06	1
rs895819	MIR23A ; LOC284454 ; MIR27A ; MIR24-2	0.623	0.560	19	13836478	non coding transcript exon variant	T/A;C;G	snv	0.34	0.38	46
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs759412116	ERCC2	0.581	0.640	19	45352210	missense variant	C/G;T	snv	4.0E-06; 6.0E-05		55
rs3218536	XRCC2	0.620	0.440	7	152648922	missense variant	C/G;T	snv	4.0E-06; 6.4E-02		37
rs1045485	CASP8	0.637	0.480	2	201284866	missense variant	G/A;C;T	snv	4.0E-06; 9.0E-02		34
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv			34
rs1136201	ERBB2	0.645	0.280	17	39723335	missense variant	A/G;T	snv	0.20		34