DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Adenocarcinoma of large intestine ×

Variants associated to the Gene: STK40 ×

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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
rs539738963	STK40	1.000	0.080	1	36348807	missense variant	C/T	snv	2.2E-05	1.4E-05	1
rs755089893	STK40	1.000	0.080	1	36355378	missense variant	A/G	snv	4.0E-06; 8.0E-06		1