DisGeNET - a database of gene-disease associations

List of associated variants

CARDIOMYOPATHY, DILATED, 1E, C1832680

Source: UNIPROT ×

Results per page

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
rs137854618	SCN5A	0.742	0.120	3	38566426	missense variant	C/A;T	snv	8.0E-06		4
rs199473097	SCN5A	0.763	0.120	3	38606710	missense variant	G/A	snv	8.0E-06	7.0E-06	2
rs45546039	SCN5A	0.732	0.120	3	38613781	missense variant	C/A;T	snv	4.1E-06		2
rs45620037	SCN5A	0.882	0.120	3	38613787	missense variant	G/A	snv	6.6E-04	6.6E-04	2
rs137854607	SCN5A	0.882	0.120	3	38554309	missense variant	C/G;T	snv			1
rs199473071	SCN5A	0.925	0.120	3	38613772	missense variant	C/T	snv	1.7E-05	1.4E-05	1