DisGeNET - a database of gene-disease associations

List of shared variants

SCID Due to ADA Deficiency, Early-Onset, C1863236

Disease: Partial adenosine deaminase deficiency

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
rs121908740	PKIG ; ADA	0.882	0.160	20	44623054	missense variant	G/A	snv	1.3E-04	7.0E-06	3
rs121908718	PKIG ; ADA	0.925	0.160	20	44621103	missense variant	G/A;T	snv	8.0E-06; 2.8E-05		2
rs121908722	ADA	0.925	0.160	20	44625580	missense variant	C/A;G;T	snv			2