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
rs1012826460	MAPT	0.925	0.120	17	45971888	missense variant	G/A	snv	4.0E-06	1.4E-05	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
rs1235948930	MAPT	0.882	0.120	17	45983865	missense variant	C/T	snv		7.0E-06	4
rs1295855402	MAPT	0.925	0.120	17	46024034	missense variant	C/T	snv		7.0E-06	2
rs1314736087	SYBU	0.851	0.120	8	109575782	frameshift variant	GA/-	delins	4.0E-06		5
rs139108915	PAX5	0.925	0.120	9	36840599	missense variant	G/A	snv	1.0E-05	9.8E-05	3
rs1401496725	REG1A	0.925	0.120	2	79121657	missense variant	C/G;T	snv	8.0E-06; 8.0E-06		2
rs1417373701	SLCO6A1	0.925	0.120	5	102399606	missense variant	G/A	snv	4.0E-06		2
rs1566650594	PSEN1	0.851	0.120	14	73206384	splice acceptor variant	A/T	snv			4
rs1595014		0.882	0.120	7	12148903	intergenic variant	T/A	snv		0.23	3
rs1804469	MSMB ; LOC105378287	0.925	0.120	10	46033495	missense variant	T/C	snv			2
rs387906709	UBQLN2	0.776	0.120	X	56565363	missense variant	C/A;T	snv			9
rs387906711	UBQLN2	0.807	0.120	X	56565389	missense variant	C/A;T	snv	6.6E-06		6
rs544706237	REG1A	0.851	0.120	2	79121649	missense variant	A/G;T	snv	8.0E-06; 5.2E-05		5
rs5848	FAM171A2 ; GRN	0.708	0.120	17	44352876	3 prime UTR variant	C/T	snv		0.41	17
rs63749824	PSEN1	0.776	0.120	14	73170945	missense variant	C/G;T	snv	4.0E-06; 1.2E-05		8
rs63750053	PSEN1	0.827	0.120	14	73192721	missense variant	G/T	snv			5
rs63750082	PSEN1	0.732	0.120	14	73192712	missense variant	G/C;T	snv	8.0E-06		13
rs63750129	MAPT	0.882	0.120	17	45996612	missense variant	A/C	snv	4.0E-06		4
rs63750376	MAPT	0.827	0.120	17	45996657	missense variant	G/T	snv			7
rs63750416	MAPT	0.851	0.120	17	46010373	missense variant	A/C	snv			7
rs63750450	PSEN1	0.851	0.120	14	73173571	missense variant	A/G	snv			4
rs63750487	PSEN1	0.882	0.120	14	73192771	missense variant	C/T	snv			3