DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Cardiomyopathy, Dilated ×

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
rs45546039	SCN5A	0.732	0.120	3	38613781	missense variant	C/A;T	snv	4.1E-06		10
rs137854618	SCN5A	0.742	0.120	3	38566426	missense variant	C/A;T	snv	8.0E-06		5
rs727504801	SCN5A	0.925	0.080	3	38560397	frameshift variant	G/-	delins			3
rs199473161	SCN5A	1.000	0.080	3	38586038	missense variant	G/A;T	snv			2
rs199473153	SCN5A	0.882	0.120	3	38597737	stop gained	C/A;T	snv	4.0E-06		1