DisGeNET - a database of gene-disease associations

List of associated variants

Breast Carcinoma, C0678222

Source: BEFREE ×

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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
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	92
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	91
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs763780	IL17F	0.531	0.720	6	52236941	missense variant	T/C	snv	6.7E-02	6.6E-02	86
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		83
rs899127658	F2	0.547	0.720	11	46739084	missense variant	G/A;C	snv			82
rs731236	VDR	0.542	0.760	12	47844974	synonymous variant	A/G	snv	0.33	0.34	81
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv		0.68	81
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	80
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			79
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv			78
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	75
rs1800796	IL6-AS1 ; STEAP1B ; IL6	0.555	0.760	7	22726627	non coding transcript exon variant	G/C	snv		9.9E-02	74
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs17576	MMP9	0.557	0.760	20	46011586	missense variant	A/G	snv	0.39	0.36	73
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	73
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv			72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72