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
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs17663555	LOC105379030	1.000	0.080	5	73136209	intron variant	C/A;G;T	snv			3
rs80357125	BRCA1	0.882	0.080	17	43063940	missense variant	C/A;G;T	snv			3
rs144567652	FANCM	0.776	0.200	14	45198718	stop gained	C/A;T	snv	4.0E-06; 1.0E-03		8
rs147120792	ARL11	0.851	0.200	13	49630839	missense variant	C/A;T	snv	3.0E-02		6
rs2070094	BARD1	0.882	0.080	2	214767531	missense variant	C/A;T	snv	1.6E-05; 0.37		3
rs878853646	CDKN2A	0.882	0.080	9	21971106	missense variant	C/A;T	snv	4.3E-06; 8.6E-06		3
rs56343424	CYP1A1	1.000	0.080	15	74720496	missense variant	C/A;T	snv	2.1E-03; 3.3E-05		1
rs80357007	BRCA1	1.000	0.080	17	43051107	missense variant	C/A;T	snv			1
rs1058808	ERBB2	0.658	0.360	17	39727784	missense variant	C/G	snv	0.61	0.52	27
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
rs28997576	BARD1	0.776	0.160	2	214752454	missense variant	C/G;T	snv	1.5E-02		11
rs41293475	BRCA2	0.882	0.080	13	32332629	missense variant	C/G;T	snv	7.6E-04		3
rs45551636	PALB2	1.000	0.080	16	23622972	missense variant	C/G;T	snv	1.6E-02		1
rs756522395	ATM	1.000	0.080	11	108257484	missense variant	C/G;T	snv			1
rs9282861	SULT1A1	0.658	0.440	16	28606193	missense variant	C/T	snv			31
rs1042028	SULT1A1	0.658	0.440	16	28606193	missense variant	C/T	snv	0.22	0.30	30
rs876660702	BRCA1	0.851	0.160	17	43063333	splice region variant	C/T	snv			4
rs747364414	BRCA1	0.882	0.080	17	43082496	missense variant	C/T	snv	4.0E-06	7.0E-06	3
rs1186364060	HFM1	1.000	0.080	1	91353084	missense variant	C/T	snv			1
rs751942421	RASSF7 ; LMNTD2	1.000	0.080	11	562702	missense variant	C/T	snv	1.4E-05	7.0E-06	1
rs386654966	BARD1	0.882	0.080	2	214767531	missense variant	CA/AG;TG	mnv			3
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151