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
rs1056827	CYP1B1 ; CYP1B1-AS1	0.683	0.400	2	38075034	missense variant	C/A	snv	0.32	0.35	24
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
rs1057090	MCPH1 ; MCPH1-AS1	0.925	0.080	8	6621521	missense variant	C/A;G;T	snv	4.0E-06; 0.43		3
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv			34
rs1057520001	TP53	0.677	0.360	17	7674886	missense variant	A/C;G	snv			23
rs1058808	ERBB2	0.658	0.360	17	39727784	missense variant	C/G	snv	0.61	0.52	27
rs1060502346	BRCA1	0.925	0.080	17	43106513	missense variant	A/G	snv			3
rs10636	MT2A	0.851	0.160	16	56609431	3 prime UTR variant	G/C	snv		0.26	7
rs1065852	NDUFA6-DT ; LOC112268294 ; CYP2D6	0.695	0.360	22	42130692	missense variant	G/A	snv	0.21	0.19	19
rs10719	DROSHA	0.677	0.680	5	31401340	3 prime UTR variant	A/G;T	snv	0.69		24
rs10735810	VDR	0.662	0.640	12	47879112	start lost	A/C;G;T	snv			26
rs10757278	CDKN2B-AS1	0.620	0.520	9	22124478	intron variant	A/G	snv		0.40	44
rs10838524	CRY2	0.851	0.120	11	45848626	intron variant	A/G	snv		0.42	5
rs10889677	IL23R	0.627	0.720	1	67259437	3 prime UTR variant	C/A	snv		0.27	40
rs10941679		0.763	0.120	5	44706396	intergenic variant	A/G	snv		0.25	11
rs11141901	DAPK1	0.925	0.080	9	87575750	intron variant	A/G	snv		0.28	3
rs11249433	EMBP1	0.827	0.160	1	121538815	intron variant	A/C;G	snv			9
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs1136201	ERBB2	0.645	0.280	17	39723335	missense variant	A/G;T	snv	0.20		34
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs1143623	IL1B	0.677	0.440	2	112838252	upstream gene variant	C/G	snv		0.24	29
rs114729114	BRAF	0.925	0.080	7	140910797	intron variant	C/T	snv		1.1E-02	3
rs115160714	TOPBP1	0.807	0.200	3	133601021	3 prime UTR variant	G/A	snv		5.8E-03	9