DisGeNET - a database of gene-disease associations

List of associated variants

MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, C4225352

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
rs1057519946	PPP2R1A	0.732	0.280	19	52212729	missense variant	C/G;T	snv			18
rs863225094	PPP2R1A	0.827	0.160	19	52213076	missense variant	G/A	snv			10
rs786205228	PPP2R1A	0.827	0.080	19	52212718	missense variant	C/G;T	snv			6
rs1555791268	PPP2R1A	1.000		19	52212959	missense variant	C/T	snv			1
rs786205227	PPP2R1A	1.000		19	52212726	missense variant	C/T	snv			1