DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Colorectal Carcinoma ×

Variants associated to the Gene: DPYD ×

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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
rs1801265	DPYD	0.763	0.280	1	97883329	missense variant	A/G	snv		0.28	13
rs2297595	DPYD	0.776	0.320	1	97699535	missense variant	T/C	snv	8.5E-02	8.1E-02	10
rs1801160	DPYD ; DPYD-AS1	0.807	0.240	1	97305364	missense variant	C/T	snv	4.7E-02	3.9E-02	6
rs1801158	DPYD	0.925	0.160	1	97515865	missense variant	C/T	snv	1.5E-02	1.4E-02	2
rs768288280	DPYD	1.000	0.080	1	97740403	missense variant	T/C	snv	4.0E-06		2
rs150385342	DPYD	1.000	0.080	1	97740400	missense variant	C/A;T	snv	4.0E-06		1