DisGeNET - a database of gene-disease associations

List of shared variants

Complete Trisomy 21 Syndrome, C4521042

Disease: Memory impairment

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
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs63750264	APP	0.716	0.360	21	25891784	missense variant	C/A;G;T	snv			17