DisGeNET - a database of gene-disease associations

List of associated variants

Parkinson Disease, C0030567

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
rs429699	SLC6A3	0.925	0.080	5	1409012	intron variant	T/C	snv	0.96	0.98	3
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs6746030	SCN1A-AS1 ; SCN9A	0.763	0.320	2	166242648	missense variant	A/G	snv	0.88	0.88	16
rs324419	FAAH	0.925	0.120	1	46406314	stop gained	T/A;C	snv	0.87		3
rs3006458	PGLYRP4	1.000	0.040	1	153347896	missense variant	T/A;G	snv	4.0E-06; 0.82		1
rs1051931	PLA2G7	0.708	0.400	6	46705206	missense variant	A/G	snv	0.81	0.79	19
rs906807	NDUFV2	1.000	0.040	18	9117869	missense variant	T/C;G	snv	0.80; 4.0E-06		1
rs823156	SLC41A1	1.000	0.040	1	205795512	non coding transcript exon variant	G/A	snv	0.77	0.70	1
rs487230	USP24	1.000	0.040	1	55075501	missense variant	A/G	snv	0.77	0.64	1
rs6971	TSPO	0.742	0.200	22	43162920	missense variant	A/G	snv	0.76	0.75	11
rs165815	ARVCF	0.882	0.120	22	19971950	missense variant	C/T	snv	0.75	0.72	5
rs2071046	NAGLU	1.000	0.040	17	42537595	intron variant	G/A;C	snv	4.2E-06; 0.74		1
rs35479735	NR4A2	1.000	0.040	2	156326700	intron variant	C/-	delins	0.71	0.79	1
rs2293054	NOS1	0.925	0.080	12	117263909	synonymous variant	A/G;T	snv	0.69; 4.0E-06		2
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs10410544	SIRT2	0.827	0.120	19	38894892	intron variant	T/C	snv	0.68	0.67	6
rs1060826	NOS2	0.851	0.160	17	27762841	synonymous variant	T/C	snv	0.66	0.67	4
rs1051169	S100B	0.851	0.200	21	46602317	synonymous variant	C/A;G;T	snv	0.65		5
rs482912	LAMP3	1.000	0.040	3	183135882	missense variant	T/C	snv	0.65	0.59	1
rs6283	SLC2A9 ; DRD5	0.882	0.120	4	9783007	synonymous variant	C/T	snv	0.64	0.64	4
rs6791	STXBP2	1.000	0.040	19	7647391	missense variant	A/G	snv	0.63	0.67	1
rs628031	SLC22A1	0.807	0.280	6	160139813	missense variant	A/C;G	snv	5.3E-05; 0.63		8
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs2270968	MCCC1	1.000	0.040	3	183037421	missense variant	T/A;G	snv	0.63		1
rs6280	DRD3	0.602	0.520	3	114171968	missense variant	C/T	snv	0.63	0.54	57