DisGeNET - a database of gene-disease associations

List of associated variants

Acquired long QT syndrome, C2732979

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
rs1805124	SCN5A	0.742	0.280	3	38603929	missense variant	T/C	snv	0.22	0.25	16
rs199472918	KCNH2	0.882	0.120	7	150951738	missense variant	A/G	snv	7.2E-05	5.6E-05	3
rs36210422	KCNH2	0.882	0.120	7	150958449	missense variant	G/A;C	snv	3.2E-04		3
rs199473466	KCNQ1	0.882	0.120	11	2572975	missense variant	T/C	snv			3
rs121908850	ALG10	0.925	0.120	12	34026832	missense variant	G/A;T	snv	4.0E-06		2
rs755834128	KCNH2	0.925	0.120	7	150952535	missense variant	C/T	snv	2.8E-05	7.0E-06	2
rs61730283	ALG10B	1.000	0.120	12	38321127	missense variant	A/G	snv	1.9E-02	1.3E-02	1
rs6791924	SCN5A	1.000	0.120	3	38633208	missense variant	G/A	snv	8.2E-03	3.0E-02	1