DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: IMMUNODEFICIENCY 32B ×

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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
rs771694484	IFNG ; IFNG-AS1	1.000		12	68157954	missense variant	T/C	snv	4.0E-05	7.0E-06	1
rs397514710	IRF8	1.000		16	85909137	missense variant	A/G	snv			1