DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Pancreatic carcinoma ×

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			14
rs281875322	SMAD4	0.807	0.480	18	51078306	missense variant	A/G	snv	4.0E-06		6
rs80338965	SMAD4	0.851	0.480	18	51067121	frameshift variant	CAGA/-	delins			5
rs121912577	SMAD4	0.925	0.160	18	51067115	stop gained	C/G;T	snv	8.0E-06		2
rs121912576	SMAD4	1.000	0.120	18	51065539	stop gained	G/T	snv			1
rs121912578	SMAD4	1.000	0.120	18	51078285	missense variant	G/C	snv			1
rs121912579	SMAD4	1.000	0.120	18	51078351	stop gained	A/T	snv			1