DisGeNET - a database of gene-disease associations

List of shared variants

Breast Carcinoma, C0678222

Disease: Colon 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
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53
rs2585428	CYP24A1	0.763	0.200	20	54170358	intron variant	C/T	snv		0.46	11
rs4809960	CYP24A1	0.807	0.240	20	54169534	intron variant	T/C	snv		0.20	8
rs6022999	CYP24A1	0.790	0.160	20	54171474	intron variant	A/G	snv		0.36	9
rs6068816	CYP24A1	0.752	0.200	20	54164552	synonymous variant	C/T	snv	0.12	8.9E-02	12
rs8124792	CYP24A1	0.827	0.120	20	54150268	downstream gene variant	G/A	snv		7.8E-02	6
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv		0.69	78
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs4803455	TGFB1	0.752	0.280	19	41345604	intron variant	C/A	snv		0.51	11
rs1448674651	TYMS ; ENOSF1	0.667	0.560	18	671384	missense variant	G/A;C	snv	4.0E-06		23
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs1979277	SHMT1	0.620	0.560	17	18328782	missense variant	G/A	snv	0.27	0.31	45
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	40
rs760043106	TP53	0.645	0.440	17	7674947	missense variant	A/C;G;T	snv			32
rs8176318	BRCA1	0.807	0.120	17	43045257	3 prime UTR variant	C/A	snv	0.34	0.29	6
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs9904341	BIRC5	0.695	0.280	17	78214286	5 prime UTR variant	G/A;C;T	snv	0.38; 4.8E-06		20
rs1800566	NQO1	0.576	0.680	16	69711242	missense variant	G/A	snv	0.25	0.21	59
rs1044129	AVEN ; RYR3	0.790	0.200	15	33866065	3 prime UTR variant	A/G;T	snv			9
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72