DisGeNET - a database of gene-disease associations

List of associated variants

Breast Carcinoma, C0678222

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
rs2532105	BLM	0.925	0.080	15	90812255	non coding transcript exon variant	G/A	snv		0.11	4
rs28933368	ERBB2 ; MIR4728	0.851	0.080	17	39725721	missense variant	G/A	snv			4
rs3130932	TCF19 ; POU5F1	0.925	0.080	6	31166166	5 prime UTR variant	C/A	snv	0.65	0.69	4
rs3136685	CCR7	0.925	0.080	17	40563547	intron variant	C/T	snv		0.26	4
rs35054928	FGFR2	0.851	0.080	10	121580918	intron variant	C/-	delins			4
rs35749351	CAP1	0.925	0.080	1	40069762	missense variant	G/A	snv	5.7E-05	4.2E-05	4
rs362962	GRM1	0.882	0.080	6	146312682	intron variant	T/C	snv		0.39	4
rs3730477	DPCD ; POLL	0.925	0.080	10	101580299	missense variant	G/A	snv	0.17	0.16	4
rs3735615	MACC1 ; LOC101927668 ; MACC1-AS1	0.925	0.080	7	20141094	missense variant	C/A;G	snv	0.61		4
rs373587423	ERCC4	0.851	0.080	16	13935425	missense variant	T/C	snv	3.6E-05	7.0E-06	4
rs3750817	FGFR2	0.851	0.080	10	121573063	intron variant	C/G;T	snv			4
rs376066276	TRIM21	0.925	0.080	11	4390219	missense variant	C/A;T	snv	4.0E-06; 8.0E-06		4
rs3864659	AGO2	0.925	0.080	8	140545763	intron variant	A/C	snv		0.16	4
rs401549	BLM	0.925	0.080	15	90813274	intron variant	T/C	snv		0.31	4
rs417309	DGCR8	0.925	0.080	22	20111021	3 prime UTR variant	G/A	snv		6.1E-02	4
rs4986761	ATM	0.925	0.080	11	108254034	missense variant	T/C	snv	8.0E-03	7.7E-03	4
rs4986850	BRCA1	0.851	0.080	17	43093454	missense variant	C/A;T	snv	5.8E-02		4
rs4987117	BRCA2	0.925	0.080	13	32340099	missense variant	C/T	snv	1.8E-02	1.8E-02	4
rs5780218	KISS1	0.882	0.080	1	204196482	5 prime UTR variant	A/-	delins		0.44	4
rs614367		0.882	0.080	11	69513996	intergenic variant	C/T	snv		0.14	4
rs6220	LINC02456 ; HELLPAR ; IGF1	0.925	0.080	12	102400737	3 prime UTR variant	G/A	snv		0.67	4
rs6828523	ADAM29	0.851	0.080	4	174925275	intron variant	C/A	snv		0.20	4
rs704010	ZMIZ1	0.851	0.080	10	79081391	intron variant	T/C	snv		0.71	4
rs706716	PIK3R1	0.882	0.080	5	68252614	intron variant	C/T	snv		0.19	4
rs747091571	OGG1 ; CAMK1	0.925	0.080	3	9765977	missense variant	C/A	snv	4.0E-06		4