DisGeNET - a database of gene-disease associations

List of shared variants

Brugada Syndrome (disorder), C1142166

Disease: Brugada Syndrome 1

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
rs28937318	SCN5A	0.925	0.080	3	38606709	missense variant	C/A;T	snv			2
rs727505158	SCN5A	0.925	0.080	3	38599005	frameshift variant	G/-	delins		1.4E-05	2
rs794728843	SCN5A	0.925	0.080	3	38620842	splice donor variant	C/T	snv		7.0E-06	2
rs886037904	SCN5A	0.925	0.080	3	38554272	coding sequence variant	-/CCAC	delins			2