DisGeNET - a database of gene-disease associations

List of associated variants

Movement Disorders, C0026650

Source: CLINVAR ×

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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
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs61755320	SPG7	0.716	0.520	16	89546737	missense variant	C/T	snv	2.9E-03	3.5E-03	36
rs201893408	TMEM67	0.695	0.480	8	93795970	missense variant	T/A;C	snv	8.0E-06; 1.5E-04		28
rs1554389088	CAMK2B	0.807	0.160	7	44243526	missense variant	G/A	snv			27
rs28936415	PMM2	0.752	0.320	16	8811153	missense variant	G/A	snv	4.1E-03	3.7E-03	22
rs138659167	DHCR7	0.807	0.320	11	71435840	splice acceptor variant	C/A;G	snv	5.6E-05; 3.9E-03		20
rs606231435	ATP1A3	0.827	0.240	19	41970539	missense variant	C/T	snv			17
rs61750240	MECP2	0.752	0.240	X	154031020	stop gained	G/A;C	snv	5.5E-06		17
rs387906702	SMC1A	0.807	0.200	X	53403635	missense variant	A/G	snv			16
rs421016	GBA	0.683	0.440	1	155235252	missense variant	A/C;G	snv	8.0E-06; 1.3E-03		15
rs1554504663	RHOBTB2	0.851	0.080	8	23007627	missense variant	G/A	snv			11
rs1135402761	SYT1	0.827	0.320	12	79448958	missense variant	T/C	snv			11
rs775104326	CTNNB1	0.776	0.160	3	41224995	stop gained	C/A;T	snv	4.0E-06		10
rs768823392	SPG7	0.827	0.120	16	89546657	coding sequence variant	GGCGGGAGA/-	delins	2.6E-04	4.2E-04	10
rs864309483	ADCY5	0.851	0.080	3	123352464	missense variant	G/A	snv			9
rs1554402092	CAMK2B	1.000		7	44254555	missense variant	C/T	snv			8
rs80338933	SH3TC2	0.807	0.080	5	149026872	stop gained	G/A	snv	7.5E-04; 4.0E-06	6.6E-04	8
rs1555119899	ATM ; C11orf65	0.925	0.240	11	108326149	missense variant	G/C	snv			7
rs1554121872	CAMK2A	0.882	0.040	5	150250270	missense variant	T/G	snv			7
rs776095655	SLC2A1	0.827	0.160	1	42927684	missense variant	C/A;T	snv	4.0E-06		7
rs80359541	BRCA2	0.882	0.200	13	32340183	frameshift variant	C/-	del	8.0E-06		6
rs104894094	CDKN2A	0.763	0.200	9	21971058	missense variant	C/A;G;T	snv	8.5E-06; 4.3E-06		6
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02		6
rs104893915	SLC26A2	0.776	0.200	5	149980428	missense variant	C/T	snv	9.8E-04	1.0E-03	6