DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Colorectal Neoplasms ×

Variants associated to the Gene: SMAD4 ×

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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
rs377767347	SMAD4	0.742	0.520	18	51065549	missense variant	G/A;C;T	snv			13
rs80338963	SMAD4	0.776	0.280	18	51065548	missense variant	C/A;G;T	snv			11
rs121912580	SMAD4	0.807	0.280	18	51067036	missense variant	G/A;C;T	snv			7
rs1057519962	SMAD4	0.827	0.160	18	51067035	missense variant	G/A;T	snv			6
rs281875324	SMAD4	1.000	0.120	18	51065456	missense variant	A/C;G	snv			3
rs1057519739	SMAD4	1.000	0.080	18	51065518	missense variant	G/A;C	snv			1
rs1057519740	SMAD4			18	51065532	missense variant	C/A	snv			1
rs1057519741	SMAD4			18	51078417	missense variant	G/T	snv			1