DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of breast, C0006142

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
rs704010	ZMIZ1	0.851	0.080	10	79081391	intron variant	T/C	snv		0.71	4
rs1250009	ZMIZ1	0.925	0.080	10	79085654	intron variant	G/A;C	snv			2
rs200595749	ZFYVE26	0.925	0.080	14	67766404	missense variant	C/T	snv	8.8E-05	9.1E-05	2
rs1381855646	ZFHX3	0.925	0.080	16	72959537	synonymous variant	G/A	snv			2
rs4951011	ZC3H11A ; ZBED6	0.925	0.080	1	203797203	5 prime UTR variant	A/G	snv		0.14	2
rs145204276	ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76	0.658	0.320	1	173868254	splice donor variant	CAAGG/-	delins		8.8E-02	31
rs147081325	YY2 ; MBTPS2	1.000	0.080	X	21856791	missense variant	G/A	snv	4.9E-05	1.9E-04	1
rs16943468	YPEL2	0.925	0.080	17	59367748	intron variant	T/C	snv		0.12	2
rs3747093	YDJC	0.732	0.200	22	21630090	upstream gene variant	G/A	snv		0.32	16
rs1820453	YAP1	0.925	0.080	11	102109604	non coding transcript exon variant	C/A	snv		0.54	2
rs61746398	YAP1	0.925	0.080	11	102205922	missense variant	C/T	snv	5.4E-04	7.0E-04	2
rs1802904	XRN1 ; ATR	0.925	0.080	3	142449489	synonymous variant	C/T	snv	0.86	0.89	2
rs5751129	XRCC6 ; DESI1	0.752	0.320	22	41619761	intron variant	C/T	snv		0.69	14
rs132788	XRCC6	0.925	0.080	22	41663764	synonymous variant	G/A;T	snv	8.0E-05; 0.29		2
rs11685387	XRCC5	0.776	0.240	2	216109091	splice region variant	C/T	snv		0.30	9
rs9288518	XRCC5	0.776	0.240	2	216196997	intron variant	A/G	snv		0.35	9
rs828907	XRCC5	0.827	0.160	2	216108009	intron variant	G/T	snv		0.37	6
rs3835	XRCC5	0.882	0.120	2	216201914	intron variant	G/A	snv		0.21	4
rs6869366	XRCC4 ; TMEM167A	0.701	0.280	5	83075927	intron variant	T/G	snv		9.2E-02	18
rs1805377	XRCC4	0.689	0.480	5	83353124	splice acceptor variant	G/A	snv	0.23	0.25	19
rs3734091	XRCC4	0.689	0.280	5	83204915	missense variant	G/T	snv	2.3E-02	1.4E-02	19
rs28360317	XRCC4	0.716	0.280	5	83323739	intron variant	-/CCT	delins		0.24	15
rs1056503	XRCC4	0.851	0.200	5	83353158	synonymous variant	T/A;G	snv	4.0E-06; 0.23		4
rs10057194	XRCC4	0.925	0.080	5	83362752	intergenic variant	A/G	snv		0.16	2
rs1799794	XRCC3 ; KLC1	0.763	0.320	14	103712930	splice region variant	T/C	snv		0.22	12