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
rs10046	MIR4713HG ; CYP19A1	0.708	0.400	15	51210789	3 prime UTR variant	G/A	snv	0.45	0.43	18
rs10053538	HAVCR2	0.807	0.160	5	157110499	intron variant	C/A;T	snv			7
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	53
rs10090154		0.807	0.160	8	127519892	intergenic variant	T/A;C	snv			7
rs1011329790	GGCT	0.925	0.080	7	30504681	missense variant	G/A	snv			3
rs1012477	PER3	0.827	0.160	1	7798075	intron variant	G/C	snv		0.16	8
rs10165970	NPAS2	0.708	0.320	2	100840527	intron variant	G/A	snv		0.16	18
rs10204525	PDCD1	0.701	0.440	2	241850169	3 prime UTR variant	C/T	snv		0.21	20
rs10235235	ZNF394 ; ZNF789	0.925	0.080	7	99478208	intron variant	T/C	snv		0.13	4
rs1029342144	KLLN ; PTEN	0.882	0.120	10	87864162	5 prime UTR variant	C/G;T	snv			6
rs1042028	SULT1A1	0.658	0.440	16	28606193	missense variant	C/T	snv	0.22	0.30	30
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1042821	MSH6	0.732	0.280	2	47783349	missense variant	G/A;C;T	snv	0.18; 8.6E-06		16
rs1045411	HMGB1	0.708	0.360	13	30459095	3 prime UTR variant	C/T	snv		0.20	18
rs1045485	CASP8	0.637	0.480	2	201284866	missense variant	G/A;C;T	snv	4.0E-06; 9.0E-02		34
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1047768	ERCC5 ; BIVM-ERCC5	0.695	0.320	13	102852167	synonymous variant	T/C	snv	0.52	0.59	20
rs1047972	AURKA	0.716	0.240	20	56386407	missense variant	T/C	snv	0.85	0.84	19
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs1050450	GPX1	0.623	0.600	3	49357401	missense variant	G/A	snv	0.28	0.30	43
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs10519097	RORA	0.708	0.320	15	60997989	intron variant	C/T	snv		0.13	18
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1054016	TNFSF11	0.882	0.160	13	42607866	3 prime UTR variant	G/T	snv		0.35	4