DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Atypical Hemolytic Uremic Syndrome ×

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
rs782488785	ADAMTS13	1.000	0.120	9	133456105	missense variant	C/A;T	snv	4.0E-06	2.1E-05	1
rs904056711	ADAMTS13	1.000	0.120	9	133455399	missense variant	G/C	snv			1