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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs9651118	MTHFR	0.683	0.480	1	11802157	intron variant	T/C	snv		0.18	20
rs3753584	MTHFR ; CLCN6	0.827	0.080	1	11804529	5 prime UTR variant	T/C	snv		0.14	10
rs1800449	LOX	0.641	0.400	5	122077513	missense variant	C/A;T	snv	4.0E-06; 0.17		33
rs10222633	CASR	0.925	0.080	3	122258079	intron variant	G/A	snv		0.45	4
rs10934578	CASR	0.925	0.080	3	122258435	intron variant	G/T	snv		0.30	4
rs3804592	CASR	0.925	0.080	3	122260382	intron variant	G/A	snv		0.18	2
rs12485716	CASR	0.925	0.080	3	122260843	intron variant	G/A	snv		0.36	2
rs17250717	CASR	0.925	0.080	3	122261339	intron variant	G/T	snv		7.4E-02	2
rs4678174	CASR	0.925	0.080	3	122282024	intron variant	C/T	snv		0.56	2
rs2270916	CASR	0.851	0.120	3	122282252	intron variant	T/C	snv	0.13	0.11	6
rs1801725	CASR	0.633	0.600	3	122284910	missense variant	G/T	snv	0.13	0.11	39
rs1042636	CASR	0.672	0.360	3	122284922	missense variant	A/G	snv	0.15	9.0E-02	23
rs1802757	CASR	0.925	0.080	3	122286284	3 prime UTR variant	C/T	snv		0.17	2
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs2736118	TERT	0.882	0.120	5	1260080	intron variant	T/C	snv		0.33	4
rs11923427	RAF1	0.925	0.080	3	12622336	intron variant	C/G;T	snv			2
rs1902432	PCAT1 ; LOC105375751	0.851	0.120	8	127012566	intron variant	A/G	snv		0.25	4
rs13254738	PRNCR1 ; CASC19 ; PCAT1	0.807	0.160	8	127092098	non coding transcript exon variant	C/A;T	snv			8
rs13281615	CASC8 ; POU5F1B ; PCAT1 ; CASC21	0.716	0.360	8	127343372	intron variant	A/G	snv		0.43	18
rs6983267	PCAT1 ; CCAT2 ; CASC8 ; POU5F1B	0.578	0.440	8	127401060	non coding transcript exon variant	G/T	snv		0.37	62
rs7799039	LOC105375494	0.649	0.560	7	128238730	upstream gene variant	G/A;C	snv			33