DisGeNET - a database of gene-disease associations

List of associated variants

Sleep disturbances, C0037317

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
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs1555743003	ASXL3	0.701	0.520	18	33740444	splice donor variant	G/A	snv			58
rs1554888939	EHMT1	0.683	0.640	9	137798823	missense variant	G/T	snv			58
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs200661329	PIGQ	0.708	0.440	16	576255	splice donor variant	G/A;C	snv	5.7E-05		48
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv			46
rs1557043622	SLC35A2	0.695	0.400	X	48909843	missense variant	C/A	snv			46
rs1554317002	LOC112267983 ; CDK13	0.724	0.440	7	39950821	frameshift variant	C/-	delins			45
rs61816761	FLG ; FLG-AS1	0.658	0.640	1	152313385	stop gained	G/A;T	snv	9.4E-03; 8.0E-06		43
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs146539065	SEPSECS	0.752	0.240	4	25145092	synonymous variant	C/T	snv	2.8E-05	4.2E-05	34
rs776969714	SEPSECS	0.752	0.240	4	25145129	splice acceptor variant	-/C	delins		4.2E-05	34
rs1555462347	USP7	0.716	0.520	16	8901028	frameshift variant	CT/-	delins			34
rs370717845	HGSNAT	0.763	0.320	8	43161462	missense variant	G/A	snv			33
rs1057524820	SCN8A	0.776	0.280	12	51765746	missense variant	G/A;T	snv			33
rs1801260	CLOCK ; TMEM165	0.695	0.280	4	55435202	3 prime UTR variant	A/G	snv		0.25	28
rs1554389088	CAMK2B	0.807	0.160	7	44243526	missense variant	G/A	snv			27
rs10830963	MTNR1B	0.776	0.400	11	92975544	intron variant	C/G	snv		0.22	27
rs28933385	PRNP	0.695	0.320	20	4699818	missense variant	G/A	snv	4.0E-06		25
rs1448259271	IRF2BPL ; LOC107984638	0.790	0.240	14	77027279	stop gained	C/A;T	snv			23
rs148881970	NAGLU	0.724	0.360	17	42543840	missense variant	A/G	snv	5.4E-05	1.3E-04	22
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21