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
rs113211432	BARD1	0.882	0.080	2	214767532	frameshift variant	-/TG	delins			3
rs13387042	LOC105373874 ; LOC101928278	0.732	0.280	2	217041109	intergenic variant	A/G	snv		0.44	16
rs878853646	CDKN2A	0.882	0.080	9	21971106	missense variant	C/A;T	snv	4.3E-06; 8.6E-06		3
rs45551636	PALB2	1.000	0.080	16	23622972	missense variant	C/G;T	snv	1.6E-02		1
rs152451	PALB2	1.000	0.080	16	23634870	missense variant	T/A;C	snv	0.10		1
rs3736265	PPARGC1A	0.790	0.360	4	23813084	missense variant	G/A;T	snv	8.6E-02; 2.8E-05		7
rs61764370	KRAS	0.662	0.320	12	25207290	3 prime UTR variant	A/C	snv		6.2E-02	29
rs767915085	SULT1A1	0.882	0.080	16	28606122	missense variant	T/C	snv	8.0E-06	7.1E-06	3
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
rs1346044	WRN	0.708	0.440	8	31167138	missense variant	T/C	snv	0.24	0.23	23
rs80358505	BRCA2	1.000	0.080	13	32319249	missense variant	A/G;T	snv			1
rs41293475	BRCA2	0.882	0.080	13	32332629	missense variant	C/G;T	snv	7.6E-04		3
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs28363284	RAD51D ; RAD51L3-RFFL	0.882	0.080	17	35103294	missense variant	T/C	snv	9.7E-03	1.1E-02	5
rs1801201	ERBB2	1.000	0.080	17	39723332	missense variant	A/C;G	snv	4.0E-06; 4.9E-03		1
rs1136201	ERBB2	0.645	0.280	17	39723335	missense variant	A/G;T	snv	0.20		34
rs1058808	ERBB2	0.658	0.360	17	39727784	missense variant	C/G	snv	0.61	0.52	27
rs121917739	RAD51	0.882	0.080	15	40718818	missense variant	G/A	snv	3.7E-04	1.7E-03	4
rs12516	BRCA1	0.851	0.160	17	43044391	3 prime UTR variant	G/A	snv	0.34	0.31	4
rs398122697	BRCA1	0.925	0.080	17	43049170	missense variant	A/G	snv	4.0E-06		2
rs80357007	BRCA1	1.000	0.080	17	43051107	missense variant	C/A;T	snv			1
rs876660702	BRCA1	0.851	0.160	17	43063333	splice region variant	C/T	snv			4
rs80357125	BRCA1	0.882	0.080	17	43063940	missense variant	C/A;G;T	snv			3
rs1060915	BRCA1	1.000	0.080	17	43082453	synonymous variant	A/G	snv	0.35	0.30	1