DisGeNET - a database of gene-disease associations

List of shared variants

Malignant neoplasm of breast, C0006142

Disease: Colorectal Carcinoma

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
rs10090154		0.807	0.160	8	127519892	intergenic variant	T/A;C	snv			7
rs2069514		0.807	0.160	15	74745879	upstream gene variant	G/A	snv		0.13	9
rs6013897		0.790	0.200	20	54125940	regulatory region variant	T/A	snv		0.23	7
rs6583267		0.882	0.120	3	195932298	intron variant	A/G	snv			3
rs7931342		0.689	0.360	11	69227030	intergenic variant	T/G	snv		0.58	20
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs1800682	ACTA2 ; FAS	0.637	0.440	10	88990206	non coding transcript exon variant	A/G	snv		0.54	32
rs266729	ADIPOQ	0.637	0.560	3	186841685	upstream gene variant	C/A;G;T	snv			37
rs1501299	ADIPOQ ; ADIPOQ-AS1	0.597	0.720	3	186853334	intron variant	G/C;T	snv			52
rs2241766	ADIPOQ ; ADIPOQ-AS1	0.608	0.720	3	186853103	synonymous variant	T/C;G	snv	8.0E-06; 0.13		48
rs7539542	ADIPOR1	0.807	0.200	1	202940846	3 prime UTR variant	G/C	snv		0.58	9
rs4994	ADRB3	0.578	0.640	8	37966280	missense variant	A/G	snv	0.11	9.2E-02	65
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs203462	AKAP10	0.807	0.200	17	19909228	missense variant	T/C	snv	0.37	0.43	7
rs796096871	AKAP10	0.807	0.200	17	19909228	missense variant	TG/CA	mnv			6
rs6964587	AKAP9	0.851	0.120	7	92001306	missense variant	G/T	snv	0.38	0.42	4
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs387906659	AKT2	0.742	0.280	19	40257052	stop gained	C/A;T	snv			14
rs397514606	AKT3	0.763	0.320	1	243695714	missense variant	C/T	snv			14
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	42