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
rs12255372	TCF7L2	0.667	0.480	10	113049143	intron variant	G/A;T	snv			28
rs2981582	FGFR2	0.695	0.360	10	121592803	intron variant	A/G	snv		0.58	21
rs11200014	FGFR2	0.695	0.280	10	121575416	intron variant	G/A;T	snv		0.34	19
rs1219648	FGFR2	0.716	0.320	10	121586676	intron variant	A/G;T	snv			17
rs2420946	FGFR2	0.851	0.160	10	121591810	intron variant	T/C	snv		0.56	4
rs17663555	LOC105379030	1.000	0.080	5	73136209	intron variant	C/A;G;T	snv			3
rs3112612	CASC16	0.882	0.080	16	52601252	intron variant	G/A	snv		0.44	3
rs566164	CCDC162P	1.000	0.080	6	109185258	intron variant	A/G	snv		0.73	2
rs2046210		0.708	0.280	6	151627231	intergenic variant	G/A	snv		0.41	21
rs13387042	LOC105373874 ; LOC101928278	0.732	0.280	2	217041109	intergenic variant	A/G	snv		0.44	16
rs11075884		1.000	0.080	16	71321332	intergenic variant	A/C;G	snv			1
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs34301344	ARL11	0.689	0.400	13	49630893	stop gained	G/A	snv	9.7E-03	7.9E-03	22
rs755100942	ARL11	0.724	0.320	13	49630894	stop gained	G/A	snv	4.2E-06		17
rs144567652	FANCM	0.776	0.200	14	45198718	stop gained	C/A;T	snv	4.0E-06; 1.0E-03		8
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
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs759412116	ERCC2	0.581	0.640	19	45352210	missense variant	C/G;T	snv	4.0E-06; 6.0E-05		55