DisGeNET - a database of gene-disease associations

List of associated variants

Colon Carcinoma, C0699790

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
rs1448674651	TYMS ; ENOSF1	0.667	0.560	18	671384	missense variant	G/A;C	snv	4.0E-06		23
rs12953717	SMAD7	0.724	0.240	18	48927559	intron variant	C/T	snv		0.36	18
rs4464148	SMAD7	0.827	0.120	18	48932662	intron variant	T/C	snv		0.25	7
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
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
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
rs2297518	NOS2	0.658	0.480	17	27769571	missense variant	G/A	snv	0.18	0.17	30
rs744166	STAT3	0.689	0.560	17	42362183	intron variant	A/G	snv		0.48	22
rs9904341	BIRC5	0.695	0.280	17	78214286	5 prime UTR variant	G/A;C;T	snv	0.38; 4.8E-06		20
rs8073069	BIRC5	0.807	0.200	17	78213692	upstream gene variant	G/C	snv		0.33	7
rs1131691029	TP53	0.827	0.160	17	7673794	missense variant	C/G	snv			6
rs17878467	BIRC5	0.925	0.080	17	78214076	upstream gene variant	C/G;T	snv			6
rs8176318	BRCA1	0.807	0.120	17	43045257	3 prime UTR variant	C/A	snv	0.34	0.29	6
rs2737	CDK5RAP3	0.851	0.080	17	47981705	missense variant	T/C	snv	0.25	0.19	4
rs4562	ELP5 ; CLDN7	0.925	0.080	17	7260420	missense variant	A/G	snv	0.65	0.70	3
rs2243828	MPO	0.925	0.080	17	58281523	upstream gene variant	A/G;T	snv			2
rs2302313	EPX ; MKS1	0.925	0.080	17	58205665	3 prime UTR variant	G/A	snv	9.2E-02	8.3E-02	2
rs3744400	ELP5 ; CLDN7	0.925	0.080	17	7260404	synonymous variant	A/C;G	snv	4.1E-02; 8.0E-06; 4.0E-06	2.4E-02	2
rs764986276	SHMT1	0.925	0.080	17	18333172	missense variant	C/G;T	snv	4.0E-06; 4.4E-05		2
rs8905	PRKAR1A ; FAM20A	0.925	0.080	17	68531661	3 prime UTR variant	T/A;G	snv			2
rs1800566	NQO1	0.576	0.680	16	69711242	missense variant	G/A	snv	0.25	0.21	59
rs9929218	CDH1	0.732	0.160	16	68787043	intron variant	G/A	snv		0.28	16