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
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs11191972	GSTO1	1.000	0.040	10	104247765	intron variant	C/T	snv		0.26	1
rs2297235	GSTO2	0.752	0.320	10	104274733	5 prime UTR variant	A/G	snv		0.22	11
rs156697	GSTO2	0.672	0.560	10	104279427	missense variant	A/G;T	snv	0.35		25
rs148078867	ABCA7	0.925	0.080	19	1044727	missense variant	C/G	snv	2.2E-04	2.1E-04	2
rs2494732	AKT1	0.763	0.240	14	104772855	intron variant	T/C	snv	0.50	0.47	11
rs2498799	AKT1	0.925	0.040	14	104773557	synonymous variant	C/T	snv			2
rs764931115	AKT1	0.925	0.200	14	104780148	missense variant	T/C	snv	4.0E-06		3
rs1130214	AKT1	0.742	0.280	14	104793397	5 prime UTR variant	C/A	snv		0.31	12
rs2230806	ABCA1	0.689	0.280	9	104858586	missense variant	C/T	snv	0.32	0.39	24
rs4964469	LOC100287944	1.000	0.040	12	106556209	intron variant	G/A	snv		0.46	1
rs2287161	MTERF2	0.827	0.080	12	106987362	upstream gene variant	C/G;T	snv			7
rs1348583597	KLF4	1.000	0.040	9	107487571	missense variant	G/A	snv	4.9E-06		1
rs646776	CELSR2	0.752	0.240	1	109275908	downstream gene variant	C/T	snv		0.74	25
rs1524282		1.000	0.040	7	109606047	intergenic variant	A/G	snv		6.0E-02	1
rs1058885	CSF1	0.925	0.080	1	109923844	missense variant	T/C	snv	0.38	0.39	2
rs80356718	TARDBP	0.827	0.120	1	11022209	missense variant	A/G	snv	7.6E-05	4.9E-05	5
rs367543041	TARDBP	0.742	0.200	1	11022553	missense variant	G/A;C	snv	3.0E-05		15
rs545532525	LDLR	0.851	0.200	19	11110753	missense variant	G/A	snv			5
rs4767944	ALDH2	1.000	0.040	12	111771537	intron variant	C/G;T	snv			1
rs201745983	ALDH2	0.752	0.200	12	111783219	missense variant	G/A	snv	6.8E-05	7.7E-05	14
rs441	ALDH2	0.882	0.200	12	111791045	intron variant	T/C	snv		0.18	4
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs943437		1.000	0.040	6	111921050	regulatory region variant	A/G	snv		0.30	1
rs146017617	NEUROG2-AS1 ; NEUROG2	1.000	0.040	4	112514858	missense variant	G/C	snv	1.1E-03	1.3E-03	1