DisGeNET - a database of gene-disease associations

List of associated variants

Familial Alzheimer's disease of early onset, C0338445

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
rs61761208	PSEN2	0.882	0.080	1	226885602	missense variant	A/T	snv			3
rs1038162399	APP	0.925	0.080	21	25911954	missense variant	G/A	snv	4.0E-06		2
rs1200601649	APP	0.925	0.080	21	26022022	missense variant	A/C	snv			2
rs1302192564	APP	0.925	0.080	21	26000164	missense variant	G/A	snv			2
rs1315025573	APP	0.925	0.080	21	25891849	missense variant	A/C;G	snv	4.0E-06		2
rs1451944248	APP	0.925	0.080	21	25975964	missense variant	G/A	snv			2
rs201093867	APP	0.925	0.080	21	26021995	missense variant	A/C	snv			2
rs375869205	PAM	1.000	0.080	5	103003097	missense variant	C/G;T	snv			1