DisGeNET - a database of gene-disease associations

List of shared variants

SCID Due to ADA Deficiency, Early-Onset, C1863236

Disease: Pericarditis, Tuberculous

Source: ALL

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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
rs121908723	PKIG ; ADA	0.851	0.240	20	44623039	missense variant	C/T	snv	1.2E-05	5.6E-05	4
rs121908715	ADA ; PKIG	0.882	0.240	20	44620391	missense variant	G/A	snv	5.2E-05	2.0E-04	3