DisGeNET - a database of gene-disease associations

List of shared variants

Breast Carcinoma, C0678222

Disease: Neoplasms

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
rs1011329790	GGCT	0.925	0.080	7	30504681	missense variant	G/A	snv			3
rs10235235	ZNF394 ; ZNF789	0.925	0.080	7	99478208	intron variant	T/C	snv		0.13	4
rs1057090	MCPH1 ; MCPH1-AS1	0.925	0.080	8	6621521	missense variant	C/A;G;T	snv	4.0E-06; 0.43		3
rs1060502346	BRCA1	0.925	0.080	17	43106513	missense variant	A/G	snv			3
rs1114167628	PTEN	0.925	0.080	10	87961033	stop gained	-/ATATCTAG	delins			5
rs11141901	DAPK1	0.925	0.080	9	87575750	intron variant	A/G	snv		0.28	3
rs1131691036	TP53	0.851	0.080	17	7675207	frameshift variant	GCA/CC	delins			8
rs114729114	BRAF	0.925	0.080	7	140910797	intron variant	C/T	snv		1.1E-02	3
rs1159579789	TP53	0.925	0.080	17	7673578	missense variant	T/C	snv	4.0E-06		3
rs11895168	ERBB4	0.925	0.080	2	211377467	3 prime UTR variant	A/C	snv		0.68	4
rs11977670	LOC107986854	1.000	0.080	7	140242504	downstream gene variant	G/A	snv		0.39	2
rs1207112399	ESR1	0.925	0.080	6	151842614	missense variant	G/A	snv	4.0E-06	7.0E-06	3
rs120963	NDUFAB1	0.925	0.080	16	23596749	upstream gene variant	A/G	snv		0.28	3
rs1213469537	CAV1	0.882	0.080	7	116559145	missense variant	C/T	snv	4.0E-06	1.4E-05	9
rs1285136498	NR3C1	0.807	0.080	5	143400101	missense variant	G/A	snv			13
rs12922061	CASC16	0.925	0.080	16	52601088	intron variant	C/T	snv		0.19	3
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
rs1408080623	PGR ; PGR-AS1	0.851	0.080	11	101128058	missense variant	G/A	snv			5
rs141047069	PALB2	0.925	0.080	16	23638074	missense variant	A/G	snv			3
rs141613848	SLC9A3R1	0.925	0.080	17	74768481	missense variant	A/T	snv	1.0E-03	1.2E-03	4
rs1430450850	COL11A2	0.925	0.080	6	33165971	missense variant	G/A	snv			3
rs1458567397	RGSL1	0.925	0.080	1	182530861	missense variant	C/T	snv	1.9E-05		3
rs1462893414	ESR1	0.882	0.080	6	151944323	missense variant	A/G	snv	4.0E-06	7.0E-06	5
rs147574894	NFKB1 ; LOC105377347	0.925	0.080	4	102600911	missense variant	A/G	snv	9.6E-05	3.9E-04	4