DisGeNET - a database of gene-disease associations

List of associated variants

Sleep Apnea Syndromes, C0037315

Source: ALL

Results per page

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
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs4994	ADRB3	0.578	0.640	8	37966280	missense variant	A/G	snv	0.11	9.2E-02	65
rs1555462347	USP7	0.716	0.520	16	8901028	frameshift variant	CT/-	delins			34
rs886043994	ASXL1	0.776	0.400	20	32433355	frameshift variant	GT/-	delins			21
rs1057523354	COL4A1	0.763	0.480	13	110179387	missense variant	C/A	snv			13
rs781939614	PEX11B	0.851	0.240	1	145916914	stop gained	G/A	snv	4.0E-06		11
rs781984979	PEX11B	0.851	0.240	1	145912346	stop gained	G/A	snv	4.0E-06		11
rs759304648	GSN	0.790	0.240	9	121312479	synonymous variant	G/A	snv	8.0E-05	3.5E-05	9
rs587779766	AHDC1	0.851	0.200	1	27549742	frameshift variant	CA/-	delins			7
rs587779767	AHDC1	0.851	0.200	1	27549218	frameshift variant	G/-	delins			7
rs587779768	AHDC1	0.851	0.200	1	27549569	frameshift variant	G/-	delins			7
rs397507562	GNPTAB	0.851	0.240	12	101757311	splice acceptor variant	C/G;T	snv			6
rs1555269488	GNPTAB	0.882	0.200	12	101764241	frameshift variant	-/A	delins			4
rs1553354952	WDR26	0.882	0.200	1	224404492	missense variant	C/T	snv			4
rs1553354956	WDR26	0.882	0.200	1	224404504	missense variant	A/C	snv			4
rs774870551	VCL	0.925	0.160	10	74070712	missense variant	G/A	snv	1.6E-05	7.0E-06	3
rs2229918	CD3EAP ; ERCC1	1.000	0.080	19	45409666	3 prime UTR variant	C/G	snv	4.3E-03	4.2E-03	1