DisGeNET - a database of gene-disease associations

List of associated variants

Movement Disorders, C0026650

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	Num. diseases
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv	59
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
rs1554389088	CAMK2B	0.807	0.160	7	44243526	missense variant	G/A	snv	27
rs104893878	SNCA ; SNCA-AS1	0.732	0.160	4	89835580	missense variant	C/G	snv	21
rs606231435	ATP1A3	0.827	0.240	19	41970539	missense variant	C/T	snv	18
rs387906702	SMC1A	0.807	0.200	X	53403635	missense variant	A/G	snv	16
rs1064797245	ATP1A3	0.776	0.280	19	41970540	missense variant	G/A	snv	12
rs1135402761	SYT1	0.827	0.320	12	79448958	missense variant	T/C	snv	11
rs1554504663	RHOBTB2	0.851	0.080	8	23007627	missense variant	G/A	snv	11
rs397518483	RARB	0.851	0.120	3	25596428	missense variant	C/A;T	snv	9
rs80356529	OPA1	0.827	0.240	3	193643996	missense variant	G/A;C	snv	9
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
rs587777057	GNAO1	0.827	0.040	16	56336744	missense variant	G/A	snv	8
rs1554121872	CAMK2A	0.882	0.040	5	150250270	missense variant	T/G	snv	7
rs1555119899	ATM ; C11orf65	0.925	0.240	11	108326149	missense variant	G/C	snv	7
rs74315402	PRNP	0.882	0.200	20	4699570	missense variant	C/T	snv	7
rs869312966	SCN8A	0.827	0.120	12	51806345	missense variant	G/T	snv	7
rs886041761	KCNA2	0.925	0.200	1	110603902	missense variant	C/T	snv	6
rs1057519430	DDX3X	0.925		X	41346946	missense variant	C/T	snv	5
rs1565922388	SYT1	0.925		12	79353599	missense variant	T/A	snv	5
rs1565922395	SYT1	0.925		12	79353602	missense variant	A/G	snv	5
rs1565962725	SYT1	0.925		12	79448953	missense variant	C/A	snv	5
rs587783685	KMT2D	0.925	0.120	12	49032113	stop gained	G/A	snv	5