DisGeNET - a database of gene-disease associations

List of shared variants

Frontotemporal dementia, C0338451

Disease: Dementia

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
rs387906709	UBQLN2	0.776	0.120	X	56565363	missense variant	C/A;T	snv			9
rs63749824	PSEN1	0.776	0.120	14	73170945	missense variant	C/G;T	snv	4.0E-06; 1.2E-05		8
rs1057518919	PSEN1	0.851	0.120	14	73171023	missense variant	T/G	snv			5
rs63751399	PSEN1	0.882	0.120	14	73171047	missense variant	T/A;C	snv			3
rs63751068	PSEN1	0.827	0.120	14	73186920	missense variant	G/C;T	snv			6
rs63750082	PSEN1	0.732	0.120	14	73192712	missense variant	G/C;T	snv	8.0E-06		13
rs63751287	PSEN1	0.742	0.120	14	73192792	missense variant	A/G;T	snv			13
rs63750900	PSEN1	0.763	0.160	14	73198067	missense variant	G/A	snv	4.0E-06	7.0E-06	9
rs63750231	PSEN1	0.689	0.160	14	73198100	missense variant	A/C;G	snv			23
rs63750083	PSEN1	0.732	0.160	14	73219177	missense variant	C/A;T	snv			13
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59