DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Diabetes Mellitus ×

Variants associated to the Gene: ADAMTS13 ×

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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
rs28647808	ADAMTS13	0.882	0.160	9	133440409	missense variant	C/G	snv	6.1E-02	5.8E-02	4
rs2073932	ADAMTS13			9	133440318	intron variant	A/G	snv		0.57	1
rs652600	ADAMTS13			9	133445896	intron variant	G/A	snv		0.66	1