DisGeNET - a database of gene-disease associations

List of associated variants

Lewy Body Disease, C0752347

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
rs33939927	LRRK2	0.708	0.120	12	40310434	missense variant	C/A;G;T	snv	4.0E-06; 1.2E-05		24
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs143624519	MAPT	0.724	0.240	17	45991484	missense variant	G/A;T	snv	1.5E-03; 1.2E-05		17
rs63751273	MAPT	0.645	0.280	17	46010389	missense variant	C/T	snv			42
rs616338	ABI3	0.925	0.080	17	49219935	missense variant	T/C	snv	0.99	0.99	2
rs2306604	TFAM	0.827	0.080	10	58388932	intron variant	A/C;G;T	snv			5
rs1446915570	PSEN1	0.925	0.080	14	73173623	synonymous variant	A/T	snv	4.0E-06	7.0E-06	2
rs72824905	PLCG2	0.827	0.200	16	81908423	missense variant	C/G;T	snv	5.2E-03		6
rs777296100	SNCA	0.925	0.080	4	89725318	3 prime UTR variant	-/TAA;TAAAA	ins			2
rs1342971994	SNCA	1.000	0.080	4	89822344	missense variant	C/T	snv		1.4E-05	1
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs104893875	SNCA	0.742	0.120	4	89828170	missense variant	C/T	snv	4.0E-06		13
rs7681440	SNCA-AS1 ; SNCA	1.000	0.080	4	89835399	intron variant	C/A;G	snv			1
rs1330229174	SNCA ; SNCA-AS1	0.925	0.080	4	89835568	missense variant	T/C	snv	4.0E-06		2
rs104893878	SNCA ; SNCA-AS1	0.732	0.160	4	89835580	missense variant	C/G	snv			21