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
rs2981582	FGFR2	0.695	0.360	10	121592803	intron variant	A/G	snv		0.58	21
rs3803185	ARL11	0.708	0.320	13	49630889	missense variant	T/C;G	snv	0.39		19
rs11200014	FGFR2	0.695	0.280	10	121575416	intron variant	G/A;T	snv		0.34	19
rs799917	BRCA1	0.708	0.320	17	43092919	missense variant	G/A;C;T	snv	0.40; 1.6E-05		18
rs755100942	ARL11	0.724	0.320	13	49630894	stop gained	G/A	snv	4.2E-06		17
rs1219648	FGFR2	0.716	0.320	10	121586676	intron variant	A/G;T	snv			17
rs13387042	LOC105373874 ; LOC101928278	0.732	0.280	2	217041109	intergenic variant	A/G	snv		0.44	16
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
rs144567652	FANCM	0.776	0.200	14	45198718	stop gained	C/A;T	snv	4.0E-06; 1.0E-03		8
rs1131691036	TP53	0.851	0.080	17	7675207	frameshift variant	GCA/CC	delins			8
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
rs796096871	AKAP10	0.807	0.200	17	19909228	missense variant	TG/CA	mnv			6
rs147120792	ARL11	0.851	0.200	13	49630839	missense variant	C/A;T	snv	3.0E-02		6
rs371077728	MRE11 ; MIR548L	0.827	0.320	11	94467821	stop gained	G/A;C;T	snv	5.2E-05; 4.0E-06; 7.2E-05		6
rs16940	BRCA1	0.882	0.080	17	43093220	synonymous variant	A/G	snv	0.35	0.29	5
rs63750258	FBXO11 ; MSH6	0.851	0.200	2	47800966	stop gained	G/A;C;T	snv			5
rs28363284	RAD51D ; RAD51L3-RFFL	0.882	0.080	17	35103294	missense variant	T/C	snv	9.7E-03	1.1E-02	5
rs6964587	AKAP9	0.851	0.120	7	92001306	missense variant	G/T	snv	0.38	0.42	4
rs12516	BRCA1	0.851	0.160	17	43044391	3 prime UTR variant	G/A	snv	0.34	0.31	4
rs876660702	BRCA1	0.851	0.160	17	43063333	splice region variant	C/T	snv			4
rs770140945	CYP1A1	0.882	0.200	15	74720665	missense variant	G/A	snv	4.0E-06	7.0E-06	4
rs1351211430	ERCC2	0.851	0.120	19	45369118	synonymous variant	G/A;C	snv	8.0E-06		4