DisGeNET - a database of gene-disease associations

List of associated variants

Breast Cancer, Familial, C0346153

Source: BEFREE ×

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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
rs1186364060	HFM1	1.000	0.080	1	91353084	missense variant	C/T	snv			1
rs753904217	GSTM2 ; GSTM1	1.000	0.080	1	109690557	missense variant	G/A	snv	1.9E-04	6.6E-05	1
rs1045485	CASP8	0.637	0.480	2	201284866	missense variant	G/A;C;T	snv	4.0E-06; 9.0E-02		34
rs13387042	LOC105373874 ; LOC101928278	0.732	0.280	2	217041109	intergenic variant	A/G	snv		0.44	15
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
rs113211432	BARD1	0.882	0.080	2	214767532	frameshift variant	-/TG	delins			3
rs2070094	BARD1	0.882	0.080	2	214767531	missense variant	C/A;T	snv	1.6E-05; 0.37		3
rs386654966	BARD1	0.882	0.080	2	214767531	missense variant	CA/AG;TG	mnv			3
rs63750258	FBXO11 ; MSH6	0.851	0.200	2	47800966	stop gained	G/A;C;T	snv			3
rs3736265	PPARGC1A	0.790	0.360	4	23813084	missense variant	G/A;T	snv	8.6E-02; 2.8E-05		7
rs143282828	UIMC1	1.000	0.080	5	176968697	missense variant	A/G	snv	7.3E-04	7.3E-04	1
rs17663555	LOC105379030	1.000	0.080	5	73136209	intron variant	C/A;G;T	snv			1
rs758898660	ARHGEF28	1.000	0.080	5	73892052	missense variant	G/A	snv	4.4E-06		1
rs1801132	ESR1	0.689	0.320	6	151944387	synonymous variant	G/C	snv	0.73	0.80	22
rs2046210		0.708	0.280	6	151627231	intergenic variant	G/A	snv		0.41	17
rs566164	CCDC162P	1.000	0.080	6	109185258	intron variant	A/G	snv		0.73	1
rs3218536	XRCC2	0.620	0.440	7	152648922	missense variant	C/G;T	snv	4.0E-06; 6.4E-02		37
rs6964587	AKAP9	0.851	0.120	7	92001306	missense variant	G/T	snv	0.38	0.42	4
rs6960867	AKAP9	0.882	0.080	7	92083384	missense variant	A/G	snv	0.36	0.34	3
rs1346044	WRN	0.708	0.440	8	31167138	missense variant	T/C	snv	0.24	0.23	23
rs4645959	CASC11 ; MYC	0.882	0.080	8	127738294	missense variant	A/C;G	snv	1.6E-05; 2.3E-02		3
rs878853646	CDKN2A	0.882	0.080	9	21971106	missense variant	C/A;T	snv	4.3E-06; 8.6E-06		3
rs12255372	TCF7L2	0.667	0.480	10	113049143	intron variant	G/A;T	snv			26
rs2981582	FGFR2	0.695	0.360	10	121592803	intron variant	A/G	snv		0.58	20