DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: PPP1R3A ×

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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
rs1799999	PPP1R3A	0.882	0.160	7	113878379	missense variant	C/A	snv	0.22	0.17	4
rs12705932	PPP1R3A			7	113987029	intron variant	G/A	snv		0.17	1
rs35449651	PPP1R3A	1.000	0.080	7	113878300	missense variant	G/T	snv	1.4E-03	1.5E-03	1
rs71571192	PPP1R3A			7	114030498	intron variant	T/A	snv		0.11	1