DisGeNET - a database of gene-disease associations

List of shared variants

Alzheimer Disease, Late Onset, C0494463

Disease: Alzheimer disease, familial, type 3

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
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
rs2075650	TOMM40	0.662	0.360	19	44892362	intron variant	A/G	snv	0.13	0.13	45
rs1051338	LIPA	0.807	0.120	10	89247603	missense variant	T/G	snv	0.32	0.26	7
rs906454643	PSEN1	0.882	0.080	14	73217219	missense variant	T/C	snv	4.0E-06		3