DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: ACTIVATED PI3K-DELTA SYNDROME ×

Variants associated to the Gene: PIK3CD ×

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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
rs397518423	PIK3CD	0.790	0.240	1	9726972	missense variant	G/A	snv			10
rs28730670	PIK3CD	1.000	0.080	1	9717608	missense variant	C/A;G;T	snv	1.4E-03		1
rs587777389	PIK3CD	1.000	0.080	1	9720793	missense variant	G/A	snv			1
rs587777390	PIK3CD	1.000	0.080	1	9719924	missense variant	T/C	snv			1