DisGeNET - a database of gene-disease associations

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	Num. diseases
rs45546039	SCN5A	0.732	0.120	3	38613781	missense variant	C/A;T	snv	4.1E-06	10
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