DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Adenocarcinoma of lung (disorder) ×

Variants associated to the Gene: PPP2R1A ×

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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
rs1057519946	PPP2R1A	0.732	0.280	19	52212729	missense variant	C/G;T	snv			17
rs1057519947	PPP2R1A	0.790	0.160	19	52212730	missense variant	G/A	snv			9