DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Colon Carcinoma ×

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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
rs4939827	SMAD7	0.708	0.160	18	48927093	intron variant	T/A;C	snv			1
rs28929495	EGFR	0.807	0.120	7	55174014	missense variant	G/A;C;T	snv			3
rs121913314	SRC	0.851	0.120	20	37403359	stop gained	C/T	snv			2
rs1057519822	MAP2K1	0.925	0.080	15	66481818	missense variant	T/A	snv			1
rs121913538	KRAS	0.882	0.080	12	25245328	missense variant	C/A;G	snv			1