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
rs12945597	TOP3A	0.925	0.080	17	18271367	downstream gene variant	G/A	snv		0.31	4
rs13000023	LOC101928278 ; LOC105373873	0.851	0.080	2	217059671	downstream gene variant	G/A;C;T	snv		0.19	4
rs13283662	UHRF2	0.925	0.080	9	6428530	intron variant	T/C	snv			4
rs1364963022	ESR1	0.925	0.080	6	151944233	missense variant	G/C	snv	4.0E-06		4
rs141613848	SLC9A3R1	0.925	0.080	17	74768481	missense variant	A/T	snv	1.0E-03	1.2E-03	4
rs142030651	EP300	0.851	0.080	22	41117723	missense variant	G/A;C	snv	6.1E-03		4
rs1432679	EBF1	0.851	0.080	5	158817075	intron variant	C/T	snv		0.44	4
rs147574894	NFKB1 ; LOC105377347	0.925	0.080	4	102600911	missense variant	A/G	snv	9.6E-05	3.9E-04	4
rs1485579458	ERBB2	0.851	0.080	17	39723921	missense variant	A/G	snv	4.0E-06		4
rs1563634	SMCR8 ; TOP3A	0.925	0.080	17	18315490	5 prime UTR variant	T/C;G	snv			4
rs1598859	NFKB1	0.925	0.080	4	102585287	intron variant	T/C	snv		0.34	4
rs16886397	MAP3K1	0.925	0.080	5	56838449	intron variant	A/G	snv		5.8E-02	4
rs16953002	FTO	0.882	0.080	16	54080912	intron variant	G/A	snv		0.19	4
rs1726801	POLD1	0.851	0.080	19	50401817	missense variant	G/A	snv	0.11	0.14	4
rs1805373	OGG1	0.925	0.080	3	9754824	missense variant	G/A;C	snv	6.6E-03; 4.1E-06		4
rs1805386	LIG4	0.925	0.080	13	108209565	synonymous variant	A/G	snv	0.13	0.14	4
rs1805389	LIG4	0.882	0.080	13	108211261	missense variant	G/A;C;T	snv	5.7E-02; 4.1E-06		4
rs200075329	ESR1	0.925	0.080	6	151808264	missense variant	T/C	snv	4.4E-03	4.3E-03	4
rs200282497	ESR1	0.925	0.080	6	151944239	missense variant	G/C	snv	3.6E-05	3.5E-05	4
rs2144025	ESR1	0.925	0.080	6	151986571	intron variant	T/A;C	snv			4
rs2145048		0.925	0.080	6	36589803	upstream gene variant	C/A	snv		0.24	4
rs2287499	WRAP53 ; TP53	0.925	0.080	17	7688850	missense variant	C/G;T	snv	0.20		4
rs2295079	MTOR	0.925	0.080	1	11262508	5 prime UTR variant	C/G	snv		0.54	4
rs2296135	IL15RA	0.851	0.080	10	5952731	3 prime UTR variant	A/C	snv		0.58	4
rs2424908	DNMT3B	0.925	0.080	20	32772577	intron variant	C/T	snv		0.27	4