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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs1131691036	TP53	0.851	0.080	17	7675207	frameshift variant	GCA/CC	delins			8
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs80357610	BRCA1	0.851	0.160	17	43094550	frameshift variant	GT/-	delins			7
rs80357750	BRCA1	0.790	0.200	17	43115759	frameshift variant	G/-	delins			8
rs868257011	PTEN	0.925	0.080	10	87961042	frameshift variant	TACTT/-	del			4
rs886039920	BRCA1	0.807	0.160	17	43115755	frameshift variant	ACAGG/-	delins			7
rs886040340	BRCA2	0.882	0.080	13	32319111	frameshift variant	-/C	delins			4
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs3746444	MIR499A ; MIR499B ; MYH7B ; LOC107985393	0.514	0.760	20	34990448	mature miRNA variant	A/G	snv	0.20	0.19	105
rs4919510	SEMA4G ; MIR608 ; MRPL43	0.641	0.520	10	100975021	mature miRNA variant	C/G	snv	0.27	0.27	32
rs10046	MIR4713HG ; CYP19A1	0.708	0.400	15	51210789	3 prime UTR variant	G/A	snv	0.45	0.43	18
rs10204525	PDCD1	0.701	0.440	2	241850169	3 prime UTR variant	C/T	snv		0.21	20
rs1045411	HMGB1	0.708	0.360	13	30459095	3 prime UTR variant	C/T	snv		0.20	18
rs1054016	TNFSF11	0.882	0.160	13	42607866	3 prime UTR variant	G/T	snv		0.35	4
rs10636	MT2A	0.851	0.160	16	56609431	3 prime UTR variant	G/C	snv		0.26	7
rs10719	DROSHA	0.677	0.680	5	31401340	3 prime UTR variant	A/G;T	snv	0.69		24
rs10889677	IL23R	0.627	0.720	1	67259437	3 prime UTR variant	C/A	snv		0.27	40
rs115160714	TOPBP1	0.807	0.200	3	133601021	3 prime UTR variant	G/A	snv		5.8E-03	9
rs11895168	ERBB4	0.925	0.080	2	211377467	3 prime UTR variant	A/C	snv		0.68	4
rs148972953	LAMTOR3	0.925	0.080	4	99881589	3 prime UTR variant	A/G	snv		8.8E-03	3
rs15869	BRCA2	0.925	0.080	13	32398875	3 prime UTR variant	A/C	snv		0.15	3
rs16405	BTRC	0.882	0.120	10	101553963	3 prime UTR variant	AACAGTGGA/-	del		0.31	4
rs1801157	CXCL12	0.611	0.600	10	44372809	3 prime UTR variant	C/T	snv		0.16	46