DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Leukemia, Myelocytic, Acute ×

Variants associated to the Gene: SETD2 ×

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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
rs1169288572	SETD2	1.000	0.040	3	47122237	missense variant	C/T	snv	8.0E-06	7.0E-06	1
rs754921650	SETD2	1.000	0.040	3	47120446	missense variant	T/C	snv	1.2E-05	2.1E-05	1