DisGeNET - a database of gene-disease associations

List of associated variants

Cardiac Arrest, C0018790

Source: CURATED ×

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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
rs334	HBB	0.724	0.240	11	5227002	missense variant	T/A;C;G	snv	3.5E-03		26
rs113994095	POLG ; MIR6766	0.701	0.360	15	89327201	missense variant	C/T	snv	5.1E-04	6.7E-04	21
rs887829	UGT1A8 ; UGT1A5 ; UGT1A6 ; UGT1A7 ; UGT1A4 ; UGT1A3 ; UGT1A10 ; UGT1A1 ; UGT1A9	0.763	0.280	2	233759924	intron variant	C/T	snv		0.36	12
rs9399137	HBS1L	0.851	0.320	6	135097880	intron variant	T/C	snv		0.20	8
rs116928232	LIPA	0.827	0.120	10	89222511	missense variant	C/G;T	snv	1.2E-05; 9.1E-04		7
rs111033560	PLN ; CEP85L	0.807	0.040	6	118559037	stop gained	T/G	snv	1.6E-05		7
rs267607277	CALM1	0.807	0.120	14	90404386	missense variant	A/G	snv			3
rs730880082	DSP	0.882	0.120	6	7576986	stop gained	C/G;T	snv			3
rs12720459	KCNQ1	0.807	0.160	11	2583535	missense variant	C/A;G;T	snv			3
rs11886868	BCL11A	0.752	0.280	2	60493111	intron variant	C/T	snv		0.65	2
rs1427407	BCL11A	0.827	0.120	2	60490908	intron variant	T/C;G	snv			2
rs587782933	CACNA1C	0.827	0.200	12	2504526	missense variant	G/A	snv			2
rs79891110	CACNA1C	0.807	0.320	12	2504944	stop gained	G/A;T	snv			2
rs755221106	CACNA1G	0.851	0.040	17	50617560	missense variant	G/A;T	snv	4.0E-06		2
rs398124647	CALM2	0.807	0.120	2	47161851	missense variant	T/A;C	snv			2
rs777919630	CBS	0.623	0.680	21	43062358	missense variant	G/A;T	snv	8.0E-06; 4.0E-06		2
rs4149000	SLCO1A2	0.882	0.080	12	21295063	non coding transcript exon variant	C/T	snv		0.11	2
rs16847548		0.807	0.120	1	162065484	upstream gene variant	T/C	snv		0.22	1
rs17779747		1.000	0.040	17	70498851	regulatory region variant	G/T	snv		0.24	1
rs786205745	CACNA1C	0.807	0.320	12	2504538	missense variant	G/A;C	snv			1
rs80315385	CACNA1C	0.882	0.200	12	2504932	missense variant	G/A	snv			1
rs587777598	ELOVL4	0.851	0.200	6	79921662	missense variant	C/G;T	snv			1
rs104894393	FGF14	0.925	0.120	13	101726785	missense variant	A/G	snv			1
rs1805123	KCNH2	0.724	0.280	7	150948446	missense variant	T/A;C;G	snv	1.3E-05; 0.18; 8.4E-06		1
rs120074192	KCNQ1	0.763	0.120	11	2527959	missense variant	A/G	snv			1