DisGeNET - a database of gene-disease associations

List of associated variants

ATRIAL FIBRILLATION, FAMILIAL, 10, C3151464

Source: CLINVAR ×

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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
rs199473097	SCN5A	0.763	0.120	3	38606710	missense variant	G/A	snv	8.0E-06	7.0E-06	9
rs757532106	SCN5A	0.763	0.120	3	38550500	stop gained	G/A	snv	4.5E-05	4.9E-05	9
rs199473119	SCN5A	0.790	0.120	3	38604035	missense variant	G/A;T	snv	8.4E-06; 4.2E-06		7
rs137854618	SCN5A	0.742	0.120	3	38566426	missense variant	C/A;T	snv	8.0E-06		5
rs765669597	SCN5A	0.851	0.120	3	38614063	stop gained	A/C;T	snv	4.7E-06		4
rs137854617	SCN5A	0.882	0.120	3	38581002	stop gained	C/A;T	snv	1.1E-04	1.5E-04	3
rs199473115	SCN5A	1.000		3	38604837	missense variant	G/A;C	snv	1.2E-05; 8.0E-06		1
rs199473579	SCN5A	1.000		3	38598978	stop gained	C/A;T	snv	4.0E-06	7.0E-06	1