DisGeNET - a database of gene-disease associations

List of associated variants

SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE, C1837845

Source: ALL

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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		15
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
rs137854612	SCN5A	0.851	0.120	3	38560170	missense variant	C/T	snv			4
rs137854611	SCN5A	0.882	0.120	3	38597787	missense variant	G/A;C;T	snv	4.0E-06		3
rs137854613	SCN5A	0.882	0.120	3	38551505	stop gained	G/A;T	snv			3
rs45620037	SCN5A	0.882	0.120	3	38613787	missense variant	G/A	snv	6.6E-04	6.6E-04	3
rs199473303	SCN5A	0.925	0.120	3	38551157	missense variant	G/A;T	snv	3.6E-05; 4.0E-06		2
rs28937319	SCN5A	1.000	0.080	3	38562485	missense variant	G/A	snv		7.0E-06	1
rs727504495	SCN5A	1.000	0.080	3	38550998	missense variant	C/A;T	snv	4.0E-06; 2.0E-05		1