DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Brugada Syndrome (disorder) ×

Variants associated to the Gene: SCN10A ×

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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
rs6795970	SCN10A	0.807	0.200	3	38725184	missense variant	A/G	snv	0.65	0.70	3
rs10428132	SCN10A	0.925	0.120	3	38736063	intron variant	T/G	snv		0.67	1
rs6798015	SCN10A	1.000	0.080	3	38757345	intron variant	C/T	snv		0.70	1