DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: LONG QT SYNDROME 3 ×

Variant: rs397514251 ×

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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
rs397514251	SCN5A	0.925	0.120	3	38555671	inframe deletion	GGGGCTTCT/-	delins			2