DisGeNET - a database of gene-disease associations

List of associated variants

Sick Sinus Syndrome, C0037052

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
rs1805124	SCN5A	0.742	0.280	3	38603929	missense variant	T/C	snv	0.22	0.25	16
rs387906656	MYH6	0.807	0.120	14	23396970	missense variant	G/A	snv		2.1E-05	6
rs199473062	SCN5A	0.827	0.120	3	38622401	stop gained	C/A;G;T	snv	4.1E-06		5
rs365990	MYH6	1.000	0.080	14	23392602	missense variant	A/G	snv	0.34	0.45	4
rs199473556	SCN5A	0.851	0.120	3	38630342	missense variant	G/A	snv			4
rs10130976	LOC101926933	1.000	0.080	14	22935497	intron variant	T/A	snv		0.12	1
rs869025519	SCN5A	1.000	0.080	3	38606037	stop gained	C/A;T	snv	4.0E-06		1