DisGeNET - a database of gene-disease associations

List of associated variants

PARKINSON DISEASE, LATE-ONSET, C3160718

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
rs652438	MMP12	0.716	0.400	11	102865911	missense variant	T/C;G	snv	7.1E-02; 2.5E-04		14
rs2276109	MMP12	0.701	0.440	11	102875061	upstream gene variant	T/C	snv		9.2E-02	18
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
rs1130214	AKT1	0.742	0.280	14	104793397	5 prime UTR variant	C/A	snv		0.31	12
rs12678719	ZFPM2	1.000		8	105503826	intron variant	C/G	snv		0.37	2
rs80356718	TARDBP	0.827	0.120	1	11022209	missense variant	A/G	snv	7.6E-05	4.9E-05	5
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs6280	DRD3	0.602	0.520	3	114171968	missense variant	C/T	snv	0.63	0.54	57
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs9697983	LOC105373328 ; GLUD2	0.925	0.040	X	121049176	missense variant	T/G	snv	2.7E-02	3.2E-02	2
rs146930051	DNAJC13	1.000		3	132467269	missense variant	G/T	snv	2.0E-05	4.2E-05	1
rs387907571	DNAJC13	0.827	0.080	3	132477995	missense variant	A/G	snv	4.2E-06	3.5E-05	6
rs766013346	DNAJC13	1.000		3	132492587	missense variant	G/A;T	snv	1.6E-05		1
rs145242123	DNAJC13	1.000		3	132522838	missense variant	C/A;T	snv	4.1E-06; 1.5E-03		1
rs75822236	GBA	0.752	0.200	1	155235002	missense variant	C/T	snv	1.8E-04	6.1E-05	10
rs80356771	GBA	0.776	0.160	1	155235196	missense variant	G/A;T	snv	7.2E-05; 4.0E-06		8
rs421016	GBA	0.683	0.440	1	155235252	missense variant	A/C;G	snv	8.0E-06; 1.3E-03		30
rs75671029	GBA	1.000		1	155235256	missense variant	C/T	snv	5.2E-04	2.3E-03	1
rs1064651	GBA	0.732	0.360	1	155235727	missense variant	C/G	snv	1.3E-04	2.0E-04	13
rs80356769	GBA	0.776	0.160	1	155235772	missense variant	C/A	snv	3.2E-05	7.0E-06	8
rs1557901552	GBA	1.000		1	155235775	missense variant	A/T	snv			1
rs1450426641	GBA	0.851	0.160	1	155235820	missense variant	A/C	snv	4.0E-06		4
rs76763715	GBA	0.658	0.520	1	155235843	missense variant	T/C;G	snv	2.3E-03		35