DisGeNET - a database of gene-disease associations

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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
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs121912438	SOD1	0.605	0.520	21	31667299	missense variant	G/A;C;T	snv	1.2E-05; 8.0E-06		58
rs63751273	MAPT	0.645	0.280	17	46010389	missense variant	C/T	snv			42
rs113994095	POLG ; MIR6766	0.701	0.360	15	89327201	missense variant	C/T	snv	5.1E-04	6.7E-04	31
rs121909329	VCP	0.763	0.200	9	35065363	missense variant	C/A;G;T	snv			11
rs34424986	PRKN	0.752	0.200	6	161785820	missense variant	G/A;T	snv	1.9E-03; 8.0E-06		10
rs431905511	SNCA	0.827	0.080	4	89828154	missense variant	C/T	snv			9
rs781908532	SLC25A1	0.827	0.160	22	19176585	missense variant	C/A;T	snv	4.0E-06; 1.6E-05	7.0E-06	8
rs1314736087	SYBU	0.851	0.120	8	109575782	frameshift variant	GA/-	delins	4.0E-06		5
rs63750800	PSEN1	0.882	0.080	14	73173585	missense variant	G/A	snv			3
rs1060501198	TP53	0.925	0.040	17	7674900	missense variant	T/C;G	snv			3
rs876658902	TP53	0.925	0.040	17	7676182	missense variant	C/T	snv			3
rs761649878	POLG	0.925	0.080	15	89318738	missense variant	G/C	snv	1.2E-05		2
rs1261281771	SOD2	0.925	0.080	6	159688191	missense variant	C/G	snv		7.0E-06	2
rs397514671	STIM1	0.925	0.120	11	4083309	missense variant	C/T	snv	4.0E-06		2
rs151191365	DLD	1.000		7	107893213	missense variant	A/G;T	snv	4.8E-05; 4.0E-06		1
rs763452636	DLD	1.000		7	107905413	missense variant	C/G	snv	8.0E-06		1
rs940780088	NOS1	1.000		12	117330477	missense variant	C/G	snv	4.0E-06	1.4E-05	1
rs1019827482	SOD2	1.000		6	159692550	missense variant	T/C	snv	6.0E-06		1