DisGeNET - a database of gene-disease associations

List of shared variants

Breast Carcinoma, C0678222

Disease: Malignant 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	Num. diseases
rs1029342144	KLLN ; PTEN	0.882	0.120	10	87864162	5 prime UTR variant	C/G;T	snv		6
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
rs1043210477	GPX1	0.701	0.520	3	49358250	missense variant	G/A	snv		19
rs1044129	AVEN ; RYR3	0.790	0.200	15	33866065	3 prime UTR variant	A/G;T	snv		9
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
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06	71
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06	41
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv		72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv		72
rs1057520001	TP53	0.677	0.360	17	7674886	missense variant	A/C;G	snv		23
rs1063320	HLA-G	0.752	0.360	6	29830972	3 prime UTR variant	C/G;T	snv		12
rs1121980	FTO	0.807	0.240	16	53775335	intron variant	G/A;C	snv		18
rs11225395	MMP8	0.776	0.360	11	102725749	intron variant	A/C;G	snv		11
rs11249433	EMBP1	0.827	0.160	1	121538815	intron variant	A/C;G	snv		9
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42	72
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins		214
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
rs1141718	SOD2	0.724	0.280	6	159688224	missense variant	A/G	snv		15
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05	57
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06	102
rs1190999960	ZNRD2-AS1 ; ZNRD2 ; FAM89B	0.807	0.240	11	65571690	missense variant	G/A	snv		9
rs1204382931	CYP1B1 ; CYP1B1-AS1	0.790	0.160	2	38075270	missense variant	A/C	snv	4.3E-06	10