DisGeNET - a database of gene-disease associations

List of associated variants

Essential Tremor, C0270736

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
rs6280	DRD3	0.602	0.520	3	114171968	missense variant	C/T	snv	0.63	0.54	57
rs421016	GBA	0.683	0.440	1	155235252	missense variant	A/C;G	snv	8.0E-06; 1.3E-03		30
rs75932628	LOC105375056 ; TREM2	0.662	0.480	6	41161514	missense variant	C/A;T	snv	6.8E-05; 2.6E-03		28
rs11558538	LOC107985948 ; HNMT	0.695	0.400	2	138002079	missense variant	C/T	snv	1.0E-01	8.4E-02	19
rs2071746	HMOX1	0.708	0.320	22	35380679	intron variant	A/T	snv		0.49	18
rs34778348	LRRK2 ; LOC105369736	0.742	0.120	12	40363526	missense variant	G/A	snv	1.7E-03	5.8E-04	15
rs1143633	IL1B	0.752	0.280	2	112832890	intron variant	C/G;T	snv			11
rs33949390	LRRK2	0.776	0.160	12	40320043	missense variant	G/A;C;T	snv	1.6E-04; 1.9E-03; 8.0E-06		9
rs35870237	LRRK2	0.763	0.120	12	40340404	missense variant	T/C	snv			9
rs1052553	MAPT	0.827	0.200	17	45996523	synonymous variant	A/G	snv	0.14	0.15	8
rs1800435	ALAD	0.827	0.200	9	113391611	missense variant	C/G	snv	8.3E-02	6.1E-02	7
rs7133914	LRRK2	0.790	0.120	12	40309109	missense variant	G/A;T	snv	8.5E-02; 1.6E-05		7
rs7308720	LRRK2	0.790	0.120	12	40263898	missense variant	C/A;G	snv	4.0E-06; 8.7E-02		7
rs755588390	PRKN	0.851	0.160	6	162262672	missense variant	T/C;G	snv			7
rs387907571	DNAJC13	0.827	0.080	3	132477995	missense variant	A/G	snv	4.2E-06	3.5E-05	6
rs72470545	HTRA2 ; LOXL3	0.807	0.280	2	74532698	missense variant	G/A	snv	4.0E-03	2.5E-03	6
rs16976358	LINC00907	0.827	0.080	18	42611606	intron variant	T/C	snv		1.0E-02	6
rs3794087	SLC1A2	0.851	0.120	11	35308068	intron variant	G/T	snv		0.20	6
rs11856808	LINGO1	0.827	0.120	15	77680428	intron variant	C/T	snv		0.42	5
rs864309650	CHCHD2	0.851	0.040	7	56104344	missense variant	G/A	snv			4