DisGeNET - a database of gene-disease associations

List of associated variants

Sporadic Breast Carcinoma, C1336076

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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1059394	TYMS ; ENOSF1	0.925	0.080	18	672792	3 prime UTR variant	C/T	snv		0.40	2
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs11655505	NBR2 ; BRCA1	0.776	0.160	17	43126360	intron variant	G/A	snv		0.31	8
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121912654	TP53	0.683	0.400	17	7675143	missense variant	C/A;T	snv	4.0E-05		21
rs1219648	FGFR2	0.716	0.320	10	121586676	intron variant	A/G;T	snv			17
rs1351211430	ERCC2	0.851	0.120	19	45369118	synonymous variant	G/A;C	snv	8.0E-06		4
rs1625895	TP53	0.752	0.200	17	7674797	non coding transcript exon variant	T/A;C;G	snv	9.1E-06; 0.86; 4.5E-06		13
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs1801132	ESR1	0.689	0.320	6	151944387	synonymous variant	G/C	snv	0.73	0.80	22
rs182176585	NAA16	1.000	0.080	13	41372227	missense variant	G/A;C	snv	1.3E-04; 4.3E-06		1
rs2228480	ESR1	0.724	0.360	6	152098960	synonymous variant	G/A	snv	0.19	0.18	16
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs2233678	PIN1 ; LOC100996288	0.732	0.360	19	9834503	non coding transcript exon variant	G/A;C	snv			14
rs2233679	PIN1 ; LOC100996288	0.763	0.360	19	9834678	splice region variant	C/T	snv		0.59	11
rs2233682	PIN1	0.827	0.240	19	9838476	synonymous variant	G/A	snv	3.7E-02	6.3E-02	5
rs2272125	FANCD2 ; FANCD2OS	1.000	0.080	3	10096385	synonymous variant	T/G	snv	0.18	0.25	1
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs2790	TYMS ; ENOSF1	0.925	0.160	18	673086	3 prime UTR variant	A/G;T	snv		0.22	2
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs2987983	ESR2	0.882	0.080	14	64296935	intron variant	A/G	snv		0.40	3