DisGeNET - a database of gene-disease associations

List of shared variants

Malignant neoplasm of ovary, C1140680

Disease: Malignant neoplasm of breast

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 GENOME	Num. diseases
rs273900729	BRCA1	0.925	0.160	17	43082529	missense variant	A/G	snv		2
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins		56
rs2981582	FGFR2	0.695	0.360	10	121592803	intron variant	A/G	snv	0.58	21
rs3177427	GSTZ1	0.827	0.160	14	77326864	stop gained	G/A;C;T	snv		5
rs3803662	CASC16	0.662	0.440	16	52552429	non coding transcript exon variant	A/G	snv	0.63	25
rs387906659	AKT2	0.742	0.280	19	40257052	stop gained	C/A;T	snv		14
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv		306
rs397514606	AKT3	0.763	0.320	1	243695714	missense variant	C/T	snv		14
rs4759314	HOTAIR	0.649	0.440	12	53968051	non coding transcript exon variant	G/A	snv	0.93	31
rs5275	PTGS2	0.583	0.560	1	186673926	3 prime UTR variant	A/G;T	snv		55
rs587776650	NBN	0.790	0.280	8	89971214	frameshift variant	GTTTT/-	delins	2.0E-04	11
rs61764370	KRAS	0.662	0.320	12	25207290	3 prime UTR variant	A/C	snv	6.2E-02	29
rs63750695	PMS2	0.851	0.280	7	5978675	frameshift variant	AAGTT/-	delins		6
rs638820	GSTM4 ; GSTM2	0.827	0.160	1	109667284	intron variant	G/A	snv	0.52	5
rs67397200		0.827	0.160	19	17290595	upstream gene variant	C/G	snv	0.27	5
rs6917	PHB	0.790	0.200	17	49404181	3 prime UTR variant	G/A	snv	0.16	7
rs6983267	PCAT1 ; CCAT2 ; CASC8 ; POU5F1B	0.578	0.440	8	127401060	non coding transcript exon variant	G/T	snv	0.37	62
rs786203319	BRCA1	0.827	0.160	17	43115759	missense variant	G/A	snv		6
rs80356897	BRCA1	0.827	0.160	17	43099853	missense variant	A/G	snv		5
rs80356952	BRCA1	0.790	0.200	17	43093901	stop gained	G/A	snv		9
rs80357438	NBR2 ; BRCA1	0.851	0.200	17	43124032	stop gained	A/G;T	snv		5
rs80357750	BRCA1	0.790	0.200	17	43115759	frameshift variant	G/-	delins		8
rs80357796	BRCA1	0.752	0.240	17	43094464	frameshift variant	T/-	del		11
rs851797	EXO1	0.752	0.240	1	241889740	3 prime UTR variant	A/G	snv	0.72	13
rs869312774	PALB2	0.925	0.160	16	23614019	frameshift variant	T/-	delins		3