DisGeNET - a database of gene-disease associations

List of shared variants

Frontotemporal dementia, C0338451

Disease: Pick Disease of the Brain

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
rs80356715	TARDBP	0.807	0.120	1	11016874	missense variant	C/G;T	snv	8.0E-06; 2.2E-04		6
rs80356726	TARDBP	0.763	0.120	1	11022352	splice acceptor variant	G/A	snv	4.0E-06		12
rs1401496725	REG1A	0.925	0.120	2	79121657	missense variant	C/G;T	snv	8.0E-06; 8.0E-06		2
rs544706237	REG1A	0.851	0.120	2	79121649	missense variant	A/G;T	snv	8.0E-06; 5.2E-05		5
rs1189501362	GSK3B	0.882	0.120	3	119863583	missense variant	G/A	snv		7.0E-06	4
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs1417373701	SLCO6A1	0.925	0.120	5	102399606	missense variant	G/A	snv	4.0E-06		2
rs773403329	SLCO6A1	0.925	0.120	5	102419925	missense variant	A/G	snv	4.1E-06	7.0E-06	2
rs75932628	LOC105375056 ; TREM2	0.662	0.480	6	41161514	missense variant	C/A;T	snv	6.8E-05; 2.6E-03		28
rs1595014		0.882	0.120	7	12148903	intergenic variant	T/A	snv		0.23	3
rs1990622		0.742	0.200	7	12244161	downstream gene variant	A/G	snv		0.52	16
rs3173615	TMEM106B	0.807	0.200	7	12229791	missense variant	C/A;G	snv	0.49		12
rs747105516	PSPH	0.851	0.120	7	56015139	missense variant	T/C	snv	4.0E-06		5
rs964520949	PSPH	0.925	0.120	7	56019715	missense variant	C/T	snv	2.2E-04; 4.0E-06	1.9E-04	2
rs1314736087	SYBU	0.851	0.120	8	109575782	frameshift variant	GA/-	delins	4.0E-06		5
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
rs139108915	PAX5	0.925	0.120	9	36840599	missense variant	G/A	snv	1.0E-05	9.8E-05	3
rs387906789	VCP	0.742	0.200	9	35065352	missense variant	G/A;C	snv	4.0E-06		14
rs767379602	VCP	0.882	0.120	9	35060823	missense variant	C/T	snv	1.2E-05	7.0E-06	3
rs1804469	MSMB ; LOC105378287	0.925	0.120	10	46033495	missense variant	T/C	snv			2
rs747481280	OPTN	0.851	0.120	10	13132068	missense variant	T/G	snv	8.0E-06		4
rs767076633	TBK1	0.925	0.120	12	64484311	missense variant	T/C	snv	1.2E-05		2
rs1205185774	AHSA1	0.882	0.120	14	77469161	missense variant	C/T	snv			4