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
rs80356537	ATP1A3	0.752	0.320	19	41970405	missense variant	C/A;G;T	snv			17
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06		41
rs63750756	MAPT	0.716	0.200	17	46010324	missense variant	T/G	snv	2.6E-05		23
rs63751273	MAPT	0.645	0.280	17	46010389	missense variant	C/T	snv			42
rs63750424	MAPT	0.677	0.240	17	46024061	missense variant	C/T	snv	1.6E-05		30
rs1245342105	SPTBN1	1.000	0.040	2	54622367	missense variant	T/C	snv	4.0E-06		2
rs387906709	UBQLN2	0.776	0.120	X	56565363	missense variant	C/A;T	snv			9
rs6295	HTR1A	0.645	0.200	5	63962738	intron variant	C/G	snv		0.49	40
rs2236225	MTHFD1	0.614	0.640	14	64442127	missense variant	G/A	snv	0.44	0.38	52
rs8074995	PRKCA	0.925	0.040	17	66796013	intron variant	G/A	snv		0.13	5
rs63750306	PSEN1	0.701	0.320	14	73173663	missense variant	A/C;G;T	snv			17
rs63750082	PSEN1	0.732	0.120	14	73192712	missense variant	G/C;T	snv	8.0E-06		13
rs16969968	CHRNA5	0.653	0.360	15	78590583	missense variant	G/A	snv	0.26	0.24	37
rs10748842	NRG3	0.807	0.120	10	81889983	intron variant	T/C	snv		0.13	8
rs6584400	NRG3	0.851	0.120	10	81896770	intron variant	G/A	snv		0.22	6
rs2189814	GRM3	0.925	0.040	7	86702440	intron variant	T/A;C	snv			3
rs4673	CYBA	0.653	0.600	16	88646828	missense variant	A/G;T	snv	0.70		32
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs104893878	SNCA ; SNCA-AS1	0.732	0.160	4	89835580	missense variant	C/G	snv			21
rs1329650	HECTD2-AS1	0.882	0.080	10	91588363	regulatory region variant	G/A;T	snv			6