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
rs10101195		1.000	0.120	8	11765703	upstream gene variant	C/A	snv		0.31	1
rs1012826460	MAPT	0.925	0.120	17	45971888	missense variant	G/A	snv	4.0E-06	1.4E-05	2
rs1026683055	GRN	0.882	0.200	17	44351429	missense variant	C/T	snv	1.6E-05	1.5E-05	3
rs1038579230	VCP	0.882	0.200	9	35067913	missense variant	C/A	snv			3
rs1048775	LOC105371925 ; TEPSIN	1.000	0.120	17	81228529	3 prime UTR variant	G/C	snv		0.42	1
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs1050210428	MAPT	0.925	0.120	17	45983258	missense variant	G/A	snv			2
rs1057518919	PSEN1	0.851	0.120	14	73171023	missense variant	T/G	snv			5
rs1085307051	MEF2C-AS1 ; MEF2C	0.925	0.160	5	88883309	5 prime UTR variant	GAGGAGGAGGAAGA/-	del			5
rs1157289563	ELP1	0.925	0.120	9	108881749	missense variant	C/T	snv			2
rs1181028283	C22orf15 ; CHCHD10	0.925	0.120	22	23766215	stop gained	G/A	snv	4.3E-06		2
rs1182182524	MAPT	0.882	0.120	17	45983724	missense variant	T/G	snv		1.4E-05	3
rs1189501362	GSK3B	0.882	0.120	3	119863583	missense variant	G/A	snv		7.0E-06	4
rs1205185774	AHSA1	0.882	0.120	14	77469161	missense variant	C/T	snv			4
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
rs121909331	VCP	0.851	0.200	9	35064167	missense variant	G/T	snv			5
rs121909334	VCP	0.752	0.200	9	35065255	missense variant	C/T	snv	1.6E-05		10
rs121909335	VCP	0.776	0.200	9	35065351	missense variant	C/T	snv	8.0E-06		9
rs121909345	DCTN1	0.882	0.120	2	74363337	missense variant	C/T	snv	2.8E-05	2.1E-05	4
rs121912438	SOD1	0.605	0.520	21	31667299	missense variant	G/A;C;T	snv	1.2E-05; 8.0E-06		58
rs1223904774	APP	0.790	0.120	21	25891772	missense variant	C/T	snv	4.0E-06	7.0E-06	8
rs1235948930	MAPT	0.882	0.120	17	45983865	missense variant	C/T	snv		7.0E-06	4
rs1251696640	TIA1 ; C2orf42	0.925	0.120	2	70212763	missense variant	T/C;G	snv			2
rs1254158201	SQSTM1 ; MRNIP	1.000	0.120	5	179836453	frameshift variant	-/T	delins	4.0E-06		1