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	Chr	Position	Consequence	Alleles	Class	AF EXOME	Num. diseases
rs781768965	PTCH1	1.000	9	95508175	stop gained	C/A;G	snv	4.0E-06	3
rs1554931219	BDNF ; BDNF-AS		11	27658063	stop gained	C/A	snv		2
rs977277400	MYBPC3		11	47336012	splice acceptor variant	C/G	snv		2