DisGeNET - a database of gene-disease associations

List of associated variants

Syncope, C0039070

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
rs1178187217	DNAH11	0.683	0.480	7	21600085	missense variant	G/A;T	snv	4.3E-06		38
rs201943194	DNAH11	0.683	0.480	7	21710596	stop gained	C/T	snv	8.5E-05	8.4E-05	38
rs543860009	TTN-AS1 ; TTN	0.742	0.320	2	178589003	stop gained	G/A;T	snv			33
rs878854378	TTN ; TTN-AS1	0.742	0.320	2	178533657	inframe deletion	GTT/-	delins			33
rs1805123	KCNH2	0.724	0.280	7	150948446	missense variant	T/A;C;G	snv	1.3E-05; 0.18; 8.4E-06		18
rs767910122	KCNH2	0.724	0.280	7	150948446	frameshift variant	-/GTCCG	ins		4.4E-05	17
rs794728448	KCNH2	0.724	0.280	7	150948445	frameshift variant	CT/G	delins			17
rs5751876	ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A	0.742	0.320	22	24441333	synonymous variant	T/C	snv	0.54	0.52	16
rs1247665387	FA2H	0.807	0.360	16	74774623	missense variant	C/A	snv		7.0E-06	14
rs868064163	ACTL6A	1.000	0.040	3	179586552	missense variant	C/T	snv		7.0E-06	13
rs766265889	TTN-AS1 ; TTN	0.827	0.240	2	178535508	stop gained	G/A;T	snv	8.0E-06; 4.0E-06		11
rs7626962	SCN5A	0.790	0.080	3	38579416	missense variant	G/A;T	snv	1.6E-05; 5.9E-03		10
rs120074193	KCNQ1	0.807	0.120	11	2572870	missense variant	G/A;C	snv	4.0E-06		7
rs199473605	SCN5A	0.851	0.120	3	38560374	missense variant	C/G;T	snv	4.8E-05; 4.0E-06		7
rs121912504	KCNH2	0.851	0.200	7	150951711	missense variant	G/A	snv			6
rs104894585	KCNJ2	0.851	0.120	17	70175263	missense variant	C/G;T	snv			5
rs199472730	KCNQ1	0.882	0.120	11	2572895	missense variant	C/G;T	snv			5
rs199472823	KCNQ1	0.851	0.240	11	2571328	missense variant	T/C	snv			5
rs121434500	SNTA1	0.851	0.120	20	33410203	missense variant	G/A	snv	2.0E-05	1.4E-05	5
rs267606782	EMD	0.925	0.120	X	154379485	start lost	A/G	snv			4
rs104894485	HCN4	0.882	0.080	15	73325378	missense variant	C/T	snv	3.6E-05	7.0E-06	4
rs1554430943	KCNH2	0.925	0.160	7	150974821	missense variant	C/T	snv			4
rs1554919471	KCNQ1	0.925	0.200	11	2768861	frameshift variant	G/-	delins			4
rs199473401	KCNQ1	0.925	0.120	11	2570722	missense variant	T/C	snv			4
rs786205753	CACNA1C	0.925	0.080	12	2593255	missense variant	G/A	snv			3