DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Torsades de Pointes ×

Variants associated to the Gene: SCN5A ×

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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
rs79299226	SCN5A	0.851	0.120	3	38550898	missense variant	A/G	snv			4
rs199473108	SCN5A	0.925	0.120	3	38606071	missense variant	G/A;C;T	snv	1.2E-05		2
rs199473339	SCN5A	0.925	0.120	3	38605953	stop gained	C/A;T	snv	6.3E-04	1.3E-04	2