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	AF GENOME	Num. diseases
rs397515359	USH1C	0.827	0.200	11	17531408	frameshift variant	-/G	delins		1.8E-04	5
rs35689081	MYO7A	0.851	0.200	11	77142783	stop gained	C/A;T	snv	3.7E-05; 3.6E-03		4