DisGeNET - a database of gene-disease associations

List of associated variants

estrogen receptor-negative breast cancer, C4733092

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
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	53
rs3803662	CASC16	0.662	0.440	16	52552429	non coding transcript exon variant	A/G	snv		0.63	25
rs1011970	CDKN2B-AS1	0.677	0.320	9	22062135	intron variant	G/T	snv		0.23	22
rs2046210		0.708	0.280	6	151627231	intergenic variant	G/A	snv		0.41	21
rs2981582	FGFR2	0.695	0.360	10	121592803	intron variant	A/G	snv		0.58	21
rs4245739	MDM4	0.708	0.360	1	204549714	3 prime UTR variant	C/A;G	snv	0.77; 6.2E-06		21
rs13387042	LOC105373874 ; LOC101928278	0.732	0.280	2	217041109	intergenic variant	A/G	snv		0.44	16
rs8170	BABAM1 ; USHBP1	0.724	0.160	19	17278895	synonymous variant	G/A	snv	0.15	0.18	13
rs700518	CYP19A1 ; MIR4713HG	0.732	0.320	15	51236915	synonymous variant	T/C	snv	0.43	0.40	13
rs2016347	IGF1R	0.790	0.160	15	98960571	3 prime UTR variant	G/A;T	snv			9
rs2602141	TP53BP1	0.790	0.120	15	43432448	missense variant	T/G	snv	0.36	0.47	9
rs2363956	ANKLE1	0.776	0.160	19	17283315	missense variant	T/G	snv	0.48	0.50	8
rs3020314	ESR1	0.790	0.280	6	151949537	intron variant	C/G;T	snv			7
rs4973768	SLC4A7	0.807	0.120	3	27374522	3 prime UTR variant	C/T	snv		0.44	7
rs4778137	OCA2	0.827	0.080	15	28082689	intron variant	C/A;G	snv			6
rs10771399		0.827	0.080	12	28002147	intergenic variant	A/G	snv		8.9E-02	5
rs16917302	ZNF365	0.851	0.080	10	62501439	intron variant	A/C	snv		0.18	5
rs2236722	CYP19A1 ; MIR4713HG	0.851	0.120	15	51242798	missense variant	A/G	snv	3.4E-03	9.1E-04	4
rs1432679	EBF1	0.851	0.080	5	158817075	intron variant	C/T	snv		0.44	4
rs981782	HCN1	0.851	0.080	5	45285616	intron variant	A/C	snv		0.34	4
rs1292011	LOC105370003	0.851	0.080	12	115398717	regulatory region variant	A/G	snv		0.43	4
rs865686	LOC105376214	0.851	0.080	9	108126198	regulatory region variant	G/A;T	snv			4