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
rs80356892	BRCA1	1.000	0.080	17	43092965	missense variant	A/G	snv	1.7E-03	4.5E-04	1
rs2272125	FANCD2 ; FANCD2OS	1.000	0.080	3	10096385	synonymous variant	T/G	snv	0.18	0.25	1
rs7350	H2AX	1.000	0.080	11	119094338	3 prime UTR variant	G/A	snv		0.30	1
rs182176585	NAA16	1.000	0.080	13	41372227	missense variant	G/A;C	snv	1.3E-04; 4.3E-06		1
rs373204088	SLC38A1	1.000	0.080	12	46209126	missense variant	C/T	snv	4.1E-06	7.0E-06	1
rs968728714	VDR	1.000	0.080	12	47904629	start lost	A/G;T	snv	1.5E-05; 7.4E-06		1
rs1059394	TYMS ; ENOSF1	0.925	0.080	18	672792	3 prime UTR variant	C/T	snv		0.40	2
rs2790	TYMS ; ENOSF1	0.925	0.160	18	673086	3 prime UTR variant	A/G;T	snv		0.22	2
rs587782555	BARD1	0.882	0.080	2	214728935	missense variant	A/G	snv		7.0E-06	3
rs730881500	BRCA1	0.882	0.080	17	43045769	missense variant	G/A	snv	8.0E-06		3
rs7759	DPAGT1 ; H2AX	0.882	0.080	11	119096581	3 prime UTR variant	A/G	snv		0.30	3
rs2987983	ESR2	0.882	0.080	14	64296935	intron variant	A/G	snv		0.40	3
rs3212964	ERCC1	0.851	0.120	19	45417538	intron variant	C/T	snv		0.18	4
rs1351211430	ERCC2	0.851	0.120	19	45369118	synonymous variant	G/A;C	snv	8.0E-06		4
rs2233682	PIN1	0.827	0.240	19	9838476	synonymous variant	G/A	snv	3.7E-02	6.3E-02	5
rs11655505	NBR2 ; BRCA1	0.776	0.160	17	43126360	intron variant	G/A	snv		0.31	8
rs3741378	SIPA1	0.851	0.080	11	65641466	missense variant	C/G;T	snv	0.15		8
rs2233679	PIN1 ; LOC100996288	0.763	0.360	19	9834678	splice region variant	C/T	snv		0.59	11
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
rs2233678	PIN1 ; LOC100996288	0.732	0.360	19	9834503	non coding transcript exon variant	G/A;C	snv			14
rs2228480	ESR1	0.724	0.360	6	152098960	synonymous variant	G/A	snv	0.19	0.18	16
rs1219648	FGFR2	0.716	0.320	10	121586676	intron variant	A/G;T	snv			17
rs5744168	TLR5	0.701	0.480	1	223111858	stop gained	G/A	snv	5.3E-02	4.4E-02	18
rs121912654	TP53	0.683	0.400	17	7675143	missense variant	C/A;T	snv	4.0E-05		21
rs34301344	ARL11	0.689	0.400	13	49630893	stop gained	G/A	snv	9.7E-03	7.9E-03	22