DisGeNET - a database of gene-disease associations

List of associated variants

Breast Cancer, Familial, C0346153

Source: CURATED ×

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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
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	21
rs11200014	FGFR2	0.695	0.280	10	121575416	intron variant	G/A;T	snv		0.34	17
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv			13
rs77724903	RET	0.672	0.280	10	43118460	missense variant	A/G;T	snv	4.0E-06; 2.1E-03		11
rs28904921	C11orf65 ; ATM	0.763	0.320	11	108329202	missense variant	T/G	snv	4.0E-05	6.3E-05	7
rs2046210		0.708	0.280	6	151627231	intergenic variant	G/A	snv		0.41	6
rs1219648	FGFR2	0.716	0.320	10	121586676	intron variant	A/G;T	snv			3
rs2981582	FGFR2	0.695	0.360	10	121592803	intron variant	A/G	snv		0.58	3
rs13387042	LOC105373874 ; LOC101928278	0.732	0.280	2	217041109	intergenic variant	A/G	snv		0.44	3
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		3
rs12255372	TCF7L2	0.667	0.480	10	113049143	intron variant	G/A;T	snv			3
rs3112612	CASC16	0.882	0.080	16	52601252	intron variant	G/A	snv		0.44	2
rs144567652	FANCM	0.776	0.200	14	45198718	stop gained	C/A;T	snv	4.0E-06; 1.0E-03		2
rs63750258	FBXO11 ; MSH6	0.851	0.200	2	47800966	stop gained	G/A;C;T	snv			2
rs2420946	FGFR2	0.851	0.160	10	121591810	intron variant	T/C	snv		0.56	2
rs17663555	LOC105379030	1.000	0.080	5	73136209	intron variant	C/A;G;T	snv			2
rs203462	AKAP10	0.807	0.200	17	19909228	missense variant	T/C	snv	0.37	0.43	1
rs6964587	AKAP9	0.851	0.120	7	92001306	missense variant	G/T	snv	0.38	0.42	1
rs398122697	BRCA1	0.925	0.080	17	43049170	missense variant	A/G	snv	4.0E-06		1
rs566164	CCDC162P	1.000	0.080	6	109185258	intron variant	A/G	snv		0.73	1
rs28359178	CYTB ; ND5 ; ND6	0.882	0.280	MT	13708	missense variant	G/A	snv			1
rs1058808	ERBB2	0.658	0.360	17	39727784	missense variant	C/G	snv	0.61	0.52	1
rs1136201	ERBB2	0.645	0.280	17	39723335	missense variant	A/G;T	snv	0.20		1
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	1
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	1