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
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
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
rs1058808	ERBB2	0.658	0.360	17	39727784	missense variant	C/G	snv	0.61	0.52	27
rs1346044	WRN	0.708	0.440	8	31167138	missense variant	T/C	snv	0.24	0.23	23
rs77724903	RET	0.672	0.280	10	43118460	missense variant	A/G;T	snv	4.0E-06; 2.1E-03		23
rs3803185	ARL11	0.708	0.320	13	49630889	missense variant	T/C;G	snv	0.39		19
rs799917	BRCA1	0.708	0.320	17	43092919	missense variant	G/A;C;T	snv	0.40; 1.6E-05		18
rs28904921	C11orf65 ; ATM	0.763	0.320	11	108329202	missense variant	T/G	snv	4.0E-05	6.3E-05	12
rs28997576	BARD1	0.776	0.160	2	214752454	missense variant	C/G;T	snv	1.5E-02		11
rs13010627	CASP10	0.807	0.280	2	201209375	missense variant	G/A	snv	4.2E-02	4.3E-02	10
rs203462	AKAP10	0.807	0.200	17	19909228	missense variant	T/C	snv	0.37	0.43	7
rs3736265	PPARGC1A	0.790	0.360	4	23813084	missense variant	G/A;T	snv	8.6E-02; 2.8E-05		7
rs147120792	ARL11	0.851	0.200	13	49630839	missense variant	C/A;T	snv	3.0E-02		6
rs796096871	AKAP10	0.807	0.200	17	19909228	missense variant	TG/CA	mnv			6
rs28363284	RAD51D ; RAD51L3-RFFL	0.882	0.080	17	35103294	missense variant	T/C	snv	9.7E-03	1.1E-02	5
rs121917739	RAD51	0.882	0.080	15	40718818	missense variant	G/A	snv	3.7E-04	1.7E-03	4
rs6964587	AKAP9	0.851	0.120	7	92001306	missense variant	G/T	snv	0.38	0.42	4
rs770140945	CYP1A1	0.882	0.200	15	74720665	missense variant	G/A	snv	4.0E-06	7.0E-06	4
rs1302297709	RAD51C	0.882	0.080	17	58703319	missense variant	A/G	snv			3
rs2070094	BARD1	0.882	0.080	2	214767531	missense variant	C/A;T	snv	1.6E-05; 0.37		3
rs28359178	CYTB ; ND5 ; ND6	0.882	0.280	MT	13708	missense variant	G/A	snv			3