DisGeNET - a database of gene-disease associations

List of associated variants

Frontotemporal dementia, C0338451

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
rs121912438	SOD1	0.605	0.520	21	31667299	missense variant	G/A;C;T	snv	1.2E-05; 8.0E-06		58
rs75932628	LOC105375056 ; TREM2	0.662	0.480	6	41161514	missense variant	C/A;T	snv	6.8E-05; 2.6E-03		28
rs1799990	PRNP	0.683	0.440	20	4699605	missense variant	A/G	snv	0.31	0.33	23
rs1980493	BTNL2 ; TSBP1-AS1	0.776	0.400	6	32395438	intron variant	T/C	snv		0.13	10
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs74315401	PRNP	0.683	0.320	20	4699525	missense variant	C/T	snv			32
rs63750306	PSEN1	0.701	0.320	14	73173663	missense variant	A/C;G;T	snv			17
rs201258663	LOC105375056 ; TREM2	0.807	0.320	6	41161457	missense variant	G/A	snv	5.6E-05	4.9E-05	6
rs63751273	MAPT	0.645	0.280	17	46010389	missense variant	C/T	snv			42
rs781049584	APP	0.724	0.280	21	26021917	missense variant	T/G	snv	8.2E-06	7.0E-06	18
rs63750424	MAPT	0.677	0.240	17	46024061	missense variant	C/T	snv	1.6E-05		30
rs63750215	PSEN2	0.701	0.240	1	226885603	missense variant	A/T	snv			19
rs1475170339	IGFALS ; SPSB3	0.732	0.240	16	1792325	missense variant	T/C;G	snv			18
rs143624519	MAPT	0.724	0.240	17	45991484	missense variant	G/A;T	snv	1.5E-03; 1.2E-05		17
rs6857	NECTIN2	0.790	0.240	19	44888997	3 prime UTR variant	C/T	snv		0.13	16
rs9268856	HLA-DRB9	0.807	0.240	6	32461942	intron variant	C/A;T	snv			6
rs4239633	UNC13A	0.851	0.240	19	17631660	intron variant	C/T	snv		0.32	4
rs533610448	MAPT	0.882	0.240	17	45983334	missense variant	A/T	snv	9.8E-05	6.3E-05	3
rs63750756	MAPT	0.716	0.200	17	46010324	missense variant	T/G	snv	2.6E-05		23
rs1990622		0.742	0.200	7	12244161	downstream gene variant	A/G	snv		0.52	16
rs367543041	TARDBP	0.742	0.200	1	11022553	missense variant	G/A;C	snv	3.0E-05		15
rs387906789	VCP	0.742	0.200	9	35065352	missense variant	G/A;C	snv	4.0E-06		14
rs3173615	TMEM106B	0.807	0.200	7	12229791	missense variant	C/A;G	snv	0.49		12
rs121909329	VCP	0.763	0.200	9	35065363	missense variant	C/A;G;T	snv			11
rs121909330	VCP	0.752	0.200	9	35065364	missense variant	G/A;C;T	snv			11