DisGeNET - a database of gene-disease associations

List of associated variants

Restless Legs Syndrome, C0035258

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs731236	VDR	0.542	0.760	12	47844974	synonymous variant	A/G	snv	0.33	0.34	81
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs855791	TMPRSS6	0.701	0.400	22	37066896	missense variant	A/G;T	snv	0.57; 4.0E-06		38
rs1801260	CLOCK ; TMEM165	0.695	0.280	4	55435202	3 prime UTR variant	A/G	snv		0.25	28
rs4746	GLO1	0.708	0.400	6	38682852	missense variant	T/A;G	snv	0.36		21
rs8193036	IL17A	0.689	0.600	6	52185695	upstream gene variant	C/T	snv		0.72	21
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
rs1143633	IL1B	0.752	0.280	2	112832890	intron variant	C/G;T	snv			11
rs9357271	BTBD9	0.776	0.160	6	38398097	intron variant	T/C	snv		0.38	8
rs1052553	MAPT	0.827	0.200	17	45996523	synonymous variant	A/G	snv	0.14	0.15	8
rs41305272	MAP2K5	0.851	0.120	15	67807105	3 prime UTR variant	C/T	snv		2.4E-02	6
rs2300478	MEIS1	0.851	0.120	2	66554321	intron variant	T/G	snv		0.21	6
rs3794087	SLC1A2	0.851	0.120	11	35308068	intron variant	G/T	snv		0.20	6
rs113851554	MEIS1	0.882	0.080	2	66523432	intron variant	G/A;T	snv			5
rs371856018	MPZ	0.882	0.120	1	161307376	missense variant	T/C;G	snv	8.0E-06		5
rs3810651	GABRQ ; LOC105373370	0.925	0.080	X	152652814	missense variant	A/C;T	snv			4
rs1830084	SRPRB ; LOC105374116 ; TF	0.882	0.160	3	133789620	3 prime UTR variant	A/G;T	snv			4
rs9296249	BTBD9	0.882	0.120	6	38398065	intron variant	T/C	snv		0.30	3
rs2412646	CLOCK ; TMEM165	0.882	0.120	4	55452605	3 prime UTR variant	T/C	snv		0.58	3
rs2280673	RAB6B	0.882	0.160	3	133839310	intron variant	A/C;T	snv			3