DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Malignant neoplasm of breast ×

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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
rs1020475809	NQO1	0.925	0.080	16	69711027	synonymous variant	A/G	snv	2.0E-05	7.0E-06	2
rs10216653	CHRAC1	0.882	0.080	8	140516886	3 prime UTR variant	G/C	snv		0.80	3
rs10235235	ZNF394 ; ZNF789	0.925	0.080	7	99478208	intron variant	T/C	snv		0.13	4
rs1024611		0.568	0.800	17	34252769	upstream gene variant	A/G	snv		0.28	63
rs10273424	TMEM225B	0.925	0.080	7	99598450	intron variant	T/A	snv		0.13	3
rs1029342144	KLLN ; PTEN	0.882	0.120	10	87864162	5 prime UTR variant	C/G;T	snv			6
rs1029946	PRKAG2	0.925	0.080	7	151578720	intron variant	A/G	snv		0.21	2
rs1033602309	SHROOM2	1.000	0.080	X	9937279	missense variant	G/C	snv			1
rs1033662	LINC01524 ; LOC105372666	0.925	0.080	20	52408842	intron variant	A/G	snv		0.46	2
rs1034429230	PACC1	1.000	0.080	1	212365260	missense variant	C/G	snv		1.4E-05	1
rs1034794		0.925	0.080	7	124801348	intergenic variant	A/T	snv		0.69	2
rs1036980234	PTCH1	0.827	0.160	9	95447156	missense variant	G/A	snv			6
rs10380	MTRR	0.807	0.200	5	7897078	missense variant	C/T	snv	0.16	0.18	6
rs1038304	CCDC170 ; LOC107986528	0.882	0.160	6	151612040	intron variant	A/G	snv		0.58	4
rs1039659576	MTR	0.689	0.520	1	236803473	missense variant	A/G	snv			21
rs10402468	USHBP1 ; BABAM1	1.000	0.080	19	17273194	intron variant	C/A	snv		0.16	1
rs10406920	USHBP1 ; BABAM1	1.000	0.080	19	17278839	splice region variant	C/T	snv	0.15	0.18	1
rs10415471	USHBP1	1.000	0.080	19	17250255	synonymous variant	C/A;G;T	snv	4.1E-06; 0.16		1
rs10416654	USHBP1 ; BABAM1	1.000	0.080	19	17274367	intron variant	T/C	snv		0.17	1
rs10418154	USHBP1 ; BABAM1	1.000	0.080	19	17275197	intron variant	A/G	snv		0.18	1
rs10418362	USHBP1 ; BABAM1	1.000	0.080	19	17275298	intron variant	A/T	snv		0.18	1
rs10419397	ANKLE1 ; BABAM1 ; USHBP1	1.000	0.080	19	17280519	intron variant	G/A;T	snv			1
rs10419742	NR2F6	1.000	0.080	19	17242176	intron variant	G/C	snv		0.11	1
rs1041981	LOC100287329 ; LTA	0.667	0.520	6	31573007	missense variant	C/A	snv	0.35	0.38	25
rs1041983	NAT2	0.732	0.240	8	18400285	synonymous variant	C/T	snv	0.34	0.36	15