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
rs796096871	AKAP10	0.807	0.200	17	19909228	missense variant	TG/CA	mnv			6
rs28904921	C11orf65 ; ATM	0.763	0.320	11	108329202	missense variant	T/G	snv	4.0E-05	6.3E-05	12
rs3803185	ARL11	0.708	0.320	13	49630889	missense variant	T/C;G	snv	0.39		19
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1346044	WRN	0.708	0.440	8	31167138	missense variant	T/C	snv	0.24	0.23	23
rs203462	AKAP10	0.807	0.200	17	19909228	missense variant	T/C	snv	0.37	0.43	7
rs28363284	RAD51D ; RAD51L3-RFFL	0.882	0.080	17	35103294	missense variant	T/C	snv	9.7E-03	1.1E-02	5
rs2420946	FGFR2	0.851	0.160	10	121591810	intron variant	T/C	snv		0.56	4
rs767915085	SULT1A1	0.882	0.080	16	28606122	missense variant	T/C	snv	8.0E-06	7.1E-06	3
rs530464947	BRCA1	1.000	0.080	17	43092137	missense variant	T/C	snv	1.6E-05	4.2E-05	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
rs152451	PALB2	1.000	0.080	16	23634870	missense variant	T/A;C	snv	0.10		1
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1131691036	TP53	0.851	0.080	17	7675207	frameshift variant	GCA/CC	delins			8
rs6964587	AKAP9	0.851	0.120	7	92001306	missense variant	G/T	snv	0.38	0.42	4
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1801132	ESR1	0.689	0.320	6	151944387	synonymous variant	G/C	snv	0.73	0.80	22
rs996659898	CTCFL	1.000	0.080	20	57500314	missense variant	G/C	snv			1
rs12255372	TCF7L2	0.667	0.480	10	113049143	intron variant	G/A;T	snv			28
rs11200014	FGFR2	0.695	0.280	10	121575416	intron variant	G/A;T	snv		0.34	19
rs3736265	PPARGC1A	0.790	0.360	4	23813084	missense variant	G/A;T	snv	8.6E-02; 2.8E-05		7
rs1045485	CASP8	0.637	0.480	2	201284866	missense variant	G/A;C;T	snv	4.0E-06; 9.0E-02		34
rs799917	BRCA1	0.708	0.320	17	43092919	missense variant	G/A;C;T	snv	0.40; 1.6E-05		18
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
rs63750258	FBXO11 ; MSH6	0.851	0.200	2	47800966	stop gained	G/A;C;T	snv			5