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
rs3836790	SLC6A3	0.882	0.080	5	1411740	intron variant	-/ACATACACACTCAGACACACATACCATGCA	ins			5
rs777296100	SNCA	0.925	0.080	4	89725318	3 prime UTR variant	-/TAA;TAAAA	ins			2
rs879253853	VPS13C	1.000	0.040	15	62013057	frameshift variant	-/TCTG	ins			1
rs387906410	CDKN2A	0.882	0.080	9	21971019	missense variant	GC/AG	mnv			4
rs1485215606	CASP3	1.000	0.040	4	184632296	frameshift variant	A/-	del	4.0E-06	7.0E-06	1
rs541455835	KANSL1	1.000	0.040	17	46099939	intron variant	A/-	del		0.14	1
rs387906315	GBA	0.790	0.160	1	155240660	frameshift variant	-/C	delins	5.2E-05	5.6E-05	8
rs28363170	SLC6A3	0.827	0.120	5	1393745	3 prime UTR variant	-/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC	delins		8.1E-06	7
rs35986369	RAB5A	1.000	0.040	3	19950975	frameshift variant	-/GG	delins			2
rs3832852	KLRG1 ; A2M	0.925	0.080	12	9093581	splice acceptor variant	ATGGT/-	delins			2
rs869312811	VPS13C	0.925	0.040	15	61947292	frameshift variant	G/-	delins			2
rs142821586	TMEM175	1.000	0.040	4	945302	intron variant	CT/-	delins		3.5E-02	1
rs35479735	NR4A2	1.000	0.040	2	156326700	intron variant	C/-	delins	0.71	0.79	1
rs35541465	GAK	1.000	0.040	4	879499	intron variant	TACT/-;TACTTACT	delins			1
rs776070150	THBS3 ; MTX1	1.000	0.040	1	155208977	inframe deletion	CGTGACTCTCCGAGGCGC/-	delins			1
rs932546861	ADH1B ; ADH1C	1.000	0.040	4	99347032	frameshift variant	C/-	delins			1
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
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205